TUGAS MEMBUAT MAKALAH GENETIKA MEDIK
Kepada seluruh
mahasiswa semester Gasal 2012/2013 kelas A untuk membuat makalah (dengan bahasa Indonesia)
dengan TOPIK yang sudah ditentukan
di bawah ini, dengan ketentuan sbb:
1. Tugas membuat makalah adalah tugas perorangan dan bukan tugas
kelompok.
2. Tiap 5 mahasiswa mendapat judul/topik yang sama.
3. Jurnal yang menjadi referensi
adalah jurnal tahun 2005 sampai dengan 2012.
4. Makalah dikumpulkan paling lambat
tgl 14 Januari 2013 jam 14.00.
Melewati waktu yang ditentukan, tugas tidak akan diterima.
Nurin Fauziah Ivada
BalasHapus11700317
" Mortality in Prader-Willi Syndrome "
Fajar Lestari 11700315
BalasHapusGROWTH HORMONE AND MORTALITY IN PRADER-WILLI SYNDROME
AYU RANI DEWINTA PUTRI 11700425
BalasHapus‘Idiopathic’ partial androgen insensitivity syndrome in 28
newborn and infant males: impact of prenatal exposure to
environmental endocrine disruptor chemicals?
intan lestari putri
BalasHapus11700395
XX Maleness and XX True Hermaphroditism in
SRY-Negative Monozygotic Twins: Additional
Evidence for a Common Origin
MELLA ISMAIFATUL AZIZAH
BalasHapus11700323
1. PRADER WILLI Syndrome and excessive daytime
sleepiness
2. Epilepsy in Prader–Willi syndrome: Clinical characteristics and correlation
to genotype
eka mei y.c.y
BalasHapus11700311
neurologycal and clinical aspects of angelman syndrome. A neuro-genetic disorders
Akbar Hamzah pamungkas
BalasHapusNPM 11700213 / 2011A
Jurnal
1. Mental Development in polisomy X Klinefelter Syndrome (47,XXY)
2. Klinefelter Syndrome in clinical practice 47,XXY
BARZAT AUDI
BalasHapus11700251
" Genetic diagnosis of Duchenne and Becker
muscular dystrophy using next-generation
sequencing technology: comprehensive
mutational search in a single platform "
prasetyo 11700207
BalasHapus"cerebrospinal fluid makers for alzheimer's cognetively cohort of young and old"
akbar hamzah p. 11700213
yang 47 xxy di ralat ganti
"deferencial pediction of vascular dementia and alzheimer disease in nondemented older adult within 5 year of initial"
cognitive outcome in adult women affected by congenital adrenal hyperplasia due to 21-Hydroxylase deficiency
BalasHapusi dewa ayu wisna pratiwi 11700409
Kadek bagus ramanda s
BalasHapus11700119
2011A
Topik: dechennce muscular dystrophy
Judul: Mammalian Models of Duchenne Muscular Dystrophy: Pathological Characteristics and Therapeutic Applications
Nama : Mei Ana Ekawati
BalasHapusNpm : 11700243/2011-A
Presensi : 115
Topik : Myotonic Dystrophy
Judul jurnal : Structural and Functional Cardiac Changes in Myotonic Dystrophy type 1 ; a Cardiovascular Magnetic Resonance Study.
nama : DWITYA APRILIA
BalasHapusnpm : 11700355
Kelas: 2011 C
no.urut : 168
Judul : "THE EFFECT OF ALPHA THALASSEMIA ON P.FALCIPARUM MALARIA PARASITAEMIA IN CHILDREN ATTENDING KOMFO ANOKYE TEACHING HOSPITAL"
Ralat:
Hapus"a-Thalassemia Impairs the Cytoadherence of
Plasmodium falciparum-Infected Erythrocytes"
Nama : Titin Aliyatur Rh
BalasHapusNpm : 11700275
Kelas : 2011c
Numor Urut : 130
Judul : Memantine for dementia in adults older than 40 years with
Down’s syndrome (MEADOWS): a randomised, double-blind,
placebo-controlled trial
Nama : Titin Aliyatur Rh
BalasHapusNpm : 11700275
Kelas : 2011c
Numor Urut : 130
Judul :
Cognitive defi cits and associated neurological complications
in individuals with Down’s syndrome
yang aku pakai judul yang ini
Nama : SUSILOWATI
BalasHapusNPM : 11700271
KELAS: 2011-c
NO. URUT : 129
JUDUL : Down Syndrome Fibroblast Model of
Alzheimer-Related Endosome Pathology
Nama : AULIY SULVIA
BalasHapusNPM : 11700447
kelas : 2011-C
NO.URUT : 210
JURNAL MG :Tentang "GENETIC COUNSELING"
1. Genetic screening and couseling:family medicine obstetrics
2. contemporary genetic counseling
3. geetic counseling and genetic testing in hereditary gastrointestinal cancer syndromes
4. reproductive decisions after fetal genetic counseling
5. familial syndrome with an X,Y translocation mosaicism: implications for genetic couseling.
boking 5 dulu yaa masih bingung n blum baca,, aku harap jangan sama dulu hee MKASI
nama : TIA ARIANI SALSABILA
NPM : 11700437
2011C
PRENAAL DIAGNOSIS
JURNAL : CHROMMOSOMAL MICROARRAY VERSUS KARYOTYPING FOR PRENATAL DIAGNOSIS
Nama : SUSILOWATI
BalasHapusNPM : 11700271
KELAS: 2011-c
NO. URUT : 129
JUDUL : Down Syndrome and Hospitalizations due to Respiratory Syncytial Virus:
A Population-Based Study
premy resti yulianti
BalasHapus11700257
A simplified gene-specific screen for Y chromosome deletions in infertile men
yang di atas salah rek
Hapus1. Y chromosome microdeletions in azoospermic patients with
Klinefelter's syndrome
2.Y chromosome microdeletions, sperm
DNA fragmentation and sperm
oxidative stress as causes of recurrent
spontaneous abortion of unknown
etiology
Nama : TIARA GALUH AGUSTINA
BalasHapusNpm : 11700089
Kelas : 2011A
No.urut : 40
Topik : hemophilia
Judul : "PROPHYLAXIS VERSUS EPISODIC TREATMENT TO PREVENT JOINT DISEASE IN BOYS WITH SEVER HEMOPHILIA"
Aku ganti : "hemophilia and joint disease"
HapusNAMA : SRI WAHYUNI
BalasHapusNPM : 11700085
KELAS: 2011 A
NO. URUT : 38
TOPIK : HEMOPHILIA
JUDUL : Challenges and successes in the treatment
of hemophilia: the story of a patient with
severe hemophilia A and high-titer inhibitors
NAMA : RIA PUJI PANGESTUTI
BalasHapusNPM : 11700087
KELAS: 2011 A
NO. URUT : 39
TOPIK : HEMOPHILIA
JUDUL : PAST, PRESENT AND FUTURE OF HEMOPHILIA:A NARRATIVE REVIEW
REMOVE
HapusInternational recommendations on the diagnosis and treatment of patients
with acquired hemophilia A
Nama : evi mekar sari
BalasHapusNo urut : 14
Topik : klinefelter syndrome
Judul : Mosaic tetrasomy 9p case with the phenotype mimicking klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production
Ralat !
BalasHapusEvi mekar sari
2011A
Topik: klinefelter syndrome
Judul : Klinefelter's syndrome (karyotype 47,xxy) and schizophrenia-spectrum pathology
nama: agmi eka yanuarita
BalasHapuskelas :2011a
npm :11700137
no.urut : 62
judul :A novel mutation 5' to the HMG box of the SRY gene in a case of
Swyer syndrome
Evi mekar sari
BalasHapusJudul : klinefelter's syndrome (XXY) as a genetic model for psychotic disorders
Maaf masih bingung
GATI SETIADIANTI
BalasHapus11700121
judul
cognitiv and adaptive deficitis in young children with duchenne muscular dystropy
MEIK SARI
BalasHapus11700327
KELAS 2011 C
PRESENSI 154
topik : chii du chat syndrome
journal of chemical and pharameceutical research
NAMA : NURI AMINI
BalasHapusNPM : 11700163
NO URUT ABSEN : 75
JUDUL JURNAL : 1. Complete Androgen Insensitivity Syndrome.
2. androgen sindrom insensitivitas
Nama : florentiana lydia r
BalasHapusNPM : 11700227
Judul : Huntington's disease clinical review
Nama florentiana lydia r
BalasHapusNPM 11700227
Absen 107
Topic Huntington disease
Journal Huntington disease clinical review
Nama sisilia Ghani desanto
BalasHapusNPM 11700159
Absensi 073
Topic complete androgen insensitivity
Journal androgen insensitivity syndrome ; clinical features and molecular defects
Anangova P 11700319
BalasHapusDifferent distribution of the genetic subtypes of the
Prader–Willi syndrome in the elderly
Dita Dian Dialoka
BalasHapus11700215
1. Marfan syndrome: clinical diagnosis and
management
2. The prevalence of obstructive sleep apnoea and its
association with aortic dilatation in Marfan’s
syndrome
NAMA : AYU DWI HANDAYANI
BalasHapusNPM : 11700075
KELAS: 2011 A
NO. URUT : 33
TOPIK : FRAGILE X SYNDROME
JUDUL : 1. The Influence of Environmental and Genetic Factors on Behavior Problems and Autistic Symptoms in Boys and Girls With Fragile X Syndrome
2. Expressive Language in Male Adolescents with Fragile X Syndrome with and without Comorbid Autism
Nama : Mahmuda Alfa F. Padang
BalasHapusNPM : 11700065
No Urut : 28
Topik : cri du chat syndrome
Judul : auditory phatology in cri du chat (5p-) syndrome: phenotypic evidence for auditory neurophaty.
Nama : I Made Maha Candra Budaya
BalasHapusNPM : 11700141
No Urut : 64
Topik : XY FEMALE
Judul : A 46,XY Female DSD Patient with Bilateral
Gonadoblastoma, a Novel SRY Missense Mutation
Combined with a WT1 KTS Splice-Site Mutation
Nama : putu ayu dyah meita wulandari
BalasHapusKelas : 2011a
Npm : 11700093
Nomer urut : 42
Topik : thalasemia alfa
Judul :
1. A PCR based method to detect alpha thalasemia with south east asia mutation
2. Detection alpha thalasemia in beta thalasemia carriers and prevention of hb barts hydrops fetalis through prenatal screening
Tambahan..
Hapus3. Simple method for screening alfa thalassemia 1 carriers
4. Erythrocyte reference values in emirati people with and without alfa thalassemia
5.alfa thalassemia in association with beta thalassemia patients in malaysia : a study on the co - inheritance of both disorders
6. A new strategy for prenatal diagnosis of homozygous alfa thalassemia
Maaf ya.. Tolong jangan di pakai.. Masih bingung mau pakai yg mana.. Makasihh..
6. A new strategy prenatal
nama : Ema Roudlotul Jannah
BalasHapusNPM : 11700321
Kelas : 2011 C
No. urut : 151
topik : prader-Willi Syndrome
Judul : Recommendations for the Diagnosis and Management of Prader-Willi Syndrome
nama : Silvia
BalasHapusNPM : 11700377
kelas : 2011 C
no.urut :177
topik : Beta-thalassemia
judul : Beta thalassemia (renzo galanello and rafaella origa)
Nama : Annanda rimasari
BalasHapusNomor : 11700335
No.urut : 158
Topik : fragile x syndrome
Judul : fragile x syndromeme ' alessandra terraciano , Pietro chizurazzi , and giovanni nero '
Nama : sherlyn puspitasari
BalasHapusNPM: 11700255
No urut : 121
Judul : quadruplex real-time polymerase chain reaction assay for molecular
diagnosis of Y chromosomal microdeletion
Topik : y chromosome microdeletion
Hapusnama : evi mekar sari
BalasHapusnpm: 1170025
topik : klinefelter syndrome
judul: Dysregulation of X-Linked Gene Expression in Klinefelter’s
Syndrome and Association With Verbal Cognition
Nama : alvin armando santoso
BalasHapusnpm : 11700187
Topik ; 47, XYY
kelas : 2011 A
No.urut ; 87
Judul ; aneuploidy study in sperm and preimplantation embryos from nonmosaic 47, XYY men
Nama : sherlyn puspitasari
BalasHapusNpm ; 11700255
No.urut ; 121
Topik ; Y chromosome microdeletion
Kelas : 2011 A
Judul : quadruplex real-time polymerase chain reaction assay for molecular diagnosis of Y chromosomal microdeletions
evi mekar sari
BalasHapustopik : klinefelter syndrome
judul : 1. Neuroanatomical Phenotype of Klinefelter Syndrome in
Childhood: A Voxel-Based Morphometry Study
2. Prevalence and Psychosocial Correlates of Depressive
Symptoms among Adolescents and Adults with Klinefelter
syndrome
masih bingung!
semuanya aja sekalian buat mekar sari :))
Hapusnama: I Wayan Adi Kastina Putra
BalasHapusnpm: 11700295
kelas: 2011 C
peresensi: 138
topik: klinefelter syndrome
judul: GRAVES DISEASE ASSOCIATED WITH KLINEFELTER'S SYNDROME
nama: nanik fattqurotul aini
BalasHapusnpm: 11700165
kelas: 2011 A
presensi: 76
topik: prenatal diagnosis
judul:Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
Nama : Dian Desiana
BalasHapusNPM: 11700015
Kelas : 2011 A
Presensi : 9
topik : turner syndrome
Judul :Turner syndrome and the evolution of human sexual dimorphism
NAMA :NI PUTU WIANDANI
BalasHapusNPM :11700203
TOPIK :AUTISM
JUDUL :A Preliminary Investigation of Prenatal Stress
and Risk Factors of Autism Spectrum Disorder
Grace
Komentar ini telah dihapus oleh pengarang.
BalasHapusKomentar ini telah dihapus oleh pengarang.
BalasHapusNAMA :IPUTU ARIS GOVINDHA P
BalasHapusNPM :11700063
NO URUT :27
TOPIK :CRI DU CHAT SYNDROME
JUDUL : Cri du Chat Syndrome and Congenital Heart Disease: A Review of Previously
Reported Cases and Presentation of an Additional 21 Cases From the Pediatric Cardiac Care Consortium
NAMA : TUTUT RACHMAWATI
BalasHapusNPM : 11700083
JUDUL : PROPHYLAXIS VERSUS EPIDODIC TREATMENT TO PREVENT JOINT DISE IN BOYS WITH SEVERE HEMOPHILIA
NAMA : SUWANTIN INDRA SARI
BalasHapusNPM : 11700077
NO. URUT : 34
TOPIK : FRAGILE X SYNDROME
JUDUL :Dysregulation of mTOR Signaling in Fragile X Syndrome
Nama : Veninoria yulia sari
BalasHapusNPM : 11700249Kelas : 2011-A
Presensi : 118
Topik : Becker Muscular Dystrophy
Judul jurnal:
1. MEASURING DISEASE SEVERITY IN DUCHENNE AND BECKER MUSCULAR DYSTROPHY
2. CARDIAC INVOLVEMENT IN PATIENTS WITH BECKER MUSCULAR DYSTROPHY; NEW DIAGNOSTIC AND PATHOPHYSIOLOGICAL INSIGHTS BY A CMR APPROACH
Nama : bambang subekti
BalasHapusNpm : 11700313
Judul : epilepsy in patients with angelman syndrome
Nama: Yeni Vuty Vera
BalasHapusNPM: 11700021
No.Urut: 12
Topik: klinefelter syndrome
Judul: High Normal Testosterone levels in infants non-mosaic klinefelter's syndrome
Erwin Yuliana
BalasHapusNPM :11700427 2011 C
judul :CAIS
1.Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and
Mayer-Rokitansky-Kuster-Hauser Syndrome.
2.Apparent Male Gender Identity in a Patient with Complete Androgen Insensitivity Syndrome.
3.Male Gender Identity in Complete Androgen Insensitivity Syndrome.
Nama :Stefani Soraya Yonelis
BalasHapusNPM :11700307
No.Urut:144
Topik :ANGELMAN SYNDROME
JUDUL :Behavior and Neuropsychiatric Manifestasions in Angelman Syndrome
ridho, 233, HUNTINGTON desase, judul : Familial Aggregation of Psychotic Symptoms
BalasHapusin Huntington’s Disease
ridho, 233, HUNTINGTON desase, judul :Correlates of Apathy in
BalasHapusHuntington’s Disease
nama : abdul azis
BalasHapusnpm : 11700019
no urut : 11
topik : klinefelter syndrome
judul : Neural systems for social cognition in Klinefelter
syndrome (47,XXY): evidence from fMRI
nuris faradita
BalasHapus11700367
thalasemia
judul : Thalassaemia Intermedia: an Update
Ni Luh Ketut Mey Diantari
BalasHapus11700393
xx male
SRY-negative 46,xx male with normal genitals, complete masculinization and infertility
Ni Luh Ketut Mey Diantari
BalasHapus11700393
xx male
SRY-negative 46,xx male with normal genitals, complete masculinization and infertility
nama : desi sumariani
BalasHapusnpm: 11700239
NO.urut: 113
topik : myotonic dystrophy
judul : 1. elektrocardiographic abnormalities and sudden death in myotonic dystrophy type 1
2. paper( myotonic dystrophy)
nama : anggi kumala rosita
BalasHapusnpm : 11700245
judul :Rimmed Vacuoles in Becker Muscular Dystrophy Have
Similar Features with Inclusion Myopathies
topik :Becker Muscular Dystrophy
no urut : 116
Nama : Ekawanda Istiana Mentari
BalasHapusNPM : 11700103
No. Urut : 47
Topik : Thalassemia Beta
Judul : Use of denaturing gradient gel electrophoresis
in screening unknown b-thalassemia mutations
in Egyptian patients
topic : GENETIC COUNSELING
BalasHapus1. ANIS SETYONINGSIH
11700179 / 2011-A
JUDUL : Genetic Counseling for Prenatal Testing: Where is the
Discussion About Disability?
2. SEJIWAN
11700175 / 2011-A
JUDUL : Standardized Human Pedigree Nomenclature: Update
and Assessment of the Recommendations of the National
Society of Genetic Counselors
3. ABDUL ROZAK
11700177 / 2011-A
JUDUL : Barriers and Facilitators for Utilization of Genetic
Counseling and Risk Assessment Services in Young
FemaleBreast Cancer Survivors
4. DENNY SETIAWAN
11700183 / 2011-A
JUDUL : Risk Assessment and Genetic Counseling for Hereditary
Breast and Ovarian Cancer: Recommendations of the
National Society of Genetic Counselors
5. MEGANTARI P
11700181 / 2011-A
JUDUL : Genetic Counseling for BRCA1/2: A Randomized Controlled
Trial of Two Strategies to Facilitate the Education
and Counseling Process
NAMA: NURI Amini
BalasHapusNPM: 11700163
NO URUT Absen: 75
JUDUL Jurnal:
1. complete androgen insensitivity Syndrome.
2. androgen Sindrom insensitivitas.
3.Timing of gonadectomy in adult women with complete androgen
insensitivity syndrome (CAIS): patient preferences and clinical
evidence
NAMA: NURI Amini
BalasHapusNPM: 11700163
NO URUT Absen: 75
JUDUL Jurnal:
1. complete androgen insensitivity Syndrome.
2. . androgen Sindrom insensitivitas
3.Timing dari gonadectomy pada wanita dewasa dengan androgen lengkap
ketidakpekaan sindrom (CAIS): preferensi pasien dan klinis
bukti
Yenna F. A
BalasHapus11700281
No urut absen : 132
judul jurnal :
"First-Trimester or Second-Trimester Screening, or Both,
for Down’s Syndrome"
febriliana
BalasHapus11700229
Huntington : Functional compensation of motor function in
pre-symptomatic Huntington’s disease
Nama : Alfi Marindi Fitrianti
BalasHapusNPM : 11700105
No. Urut : 48
Topik : Thalassemia Beta
Judul : Homozygous Deletion of Six Olfactory Receptor Genes in a Subset of Individuals with Beta-Thalassemia
Kadek bagus ramanda s
BalasHapus11700119
2011A
Topik: dechenne muscular dystrophy
Judul: ke- 2 :Analysis of an adult Duchenne muscular
dystrophy population
sory masih bingung
komang nesa trianta
BalasHapus11700421
jurnal : Complete Androgen Insensitivity Syndrome—A Review
Kadek bagus ramanda s
BalasHapus11700119
2011A
Topik: dechenne muscular dystrophy
Judul: ke- 3:Dystrophin Immunity in Duchenne
Muscular Dystrophy
sory masih bingung banget
i wayan gede ferry hendrawan
BalasHapus11700001/ 2011a
jurnal : Theory of Mind in Young People with Down’s Syndrome
A.A. Diah Puspita Dewi
BalasHapus11700035
Tema: Angelina syndrome
Judul : epilepsi in patients with Angelina syndrome
@tuesday, 13.07
Faizatul Makkiyah
BalasHapus11700287
Turner syndrome
Cognition and the sex chromosomes : studies in turner syndrome
ni made mindawati
BalasHapus11700091
thalasemia alfa
-Characterization of alpha thalassemic genotypes
by multiplex ligation-dependent probe
amplification in the Brazilian population
- Alpha-Thalassemia Is Related to Prolonged Survival
in Sickle Cell Anemia
-Molecular characterization of the - - SEA
alpha thalassemia allele in Mexican patients
with HbH disease
ralat'
Hapusjudul: thalassemia alpha
Nama : Andry cipta Pratama
BalasHapuskls A
topik : CAIS
Judul : Timing of gonadectomy in adult women with complete androgen
insensitivity syndrome (CAIS): patient preferences and clinical
evidence
Komentar ini telah dihapus oleh pengarang.
BalasHapussugik punyamu sama ma jing2
Hapuspunya sugi kok byk bgt hehehe
HapusKomentar ini telah dihapus oleh pengarang.
HapusAnonim berkata...
BalasHapusNama : Priscila Eirene Manullang
NPM: 11700173
tema : prenatal diagnosis
judul :
1.Noninvasive prenatal diagnosis of hemophilia by microļ¬uidics digital PCR analysis of maternal plasma DNA
2.Congenital Lung Abnormalities: Embryologic Features, Prenatal Diagnosis, and Postnatal Radiologic-Pathologic Correlation
NAMA : I MADE DWI HENDRAYANA SURYA
BalasHapusNPM : 11700073
KELAS: 2011'A
NO. URUT : 32
TOPIK : FRAGILE X SYNDROME
JUDUL : Genetic Counseling for Fragile X Syndrome: Updated
Recommendations of the National Society of
Genetic Counselors
Bahasa Indo: Genetik Konseling untuk Sindrom Fragile X: Diperbarui
Rekomendasi dari Masyarakat Nasional
Konselor genetik
NAMA : MARETTA PRISTIANTY
BalasHapusNPM : 11700111
KELAS : 2011 A
NO. URUT : 51
TOPIK : DUCHENNE MUSCULAR DYSTROPHY
JUDUL :
1. RELATIONSHIPS OF THIGH MUSCLE CONTRACTILE AND NON-CONTRACTILE TISSUE WITH FUNCTION , STRENGHT , AND AGE IN BOYS WITH DUCHENNE MUSCULAR DYSTROPHY
2. GROWTH HORMONE TREATMENT IN BOYS WITH DUCHENNE MUSCULAR DYSTROPHY AND GLUCOCORTICOID -INDUCED GROWTH FAILURE
Nama : Wima Nuka Refita
BalasHapusNPM : 11700235
Kelas : 2011 A
No Presensi : 111
Topik : Myotonic Dystrophy
Judul Jurnal: Preimplantation genetic diagnosis for myotonic dystrophy type1:upon request to child
I Gusti Ngurah Putu Sugiartha Putra
BalasHapusNPM : 11700225
jurnal : Huntington disease patients and transgenic mice have similar pro-catabolic serum metabolite profiles
I made rian amertadananjaya/2011a/31/fragile x syndrom : exploring the adult life of men and women wirh fragile x syndrome : results from a national survey
BalasHapusSofia izas
BalasHapusNpm : 11700349
Jurnal : recombinant factor VIII for the treatment of previously untreated patients with hemophilia A -- safety, efficacy, and development of inhibitors
Topik : hemophilia
Maaf yg di atas nggak jadi, yg jadi pakai ini
Hapus"Inhibitors of Factor VIII in Black Patients with Hemophilia"
Faris Syarifudin hidayah
BalasHapusNPM : 11700067
JURNAL : Cri du chat syndrome - a rare genetic disorder
Topik : cri du chat syndrome
Nama :I Nyoman Widiyana
BalasHapusNPM :11700107
Kelas :2011 A
No Presensi :49
Topik :beta-thalassemia
Judul Jurnal:beta thalassemia major:the morrocan experience
Nama : Nalce Duparlira
BalasHapusNPM : 11700023
Jurnal : Klinefelter’s Syndrome (XXY) as a Genetic Model for
Psychotic Disorders
nama : dipta bagus
BalasHapusNpm : 11700219
Topik : marfan syndrome
judul : the diagnostic value of the facial features of marfan syndrome
Nama : I Putu Krisna Murti
BalasHapusnpm : 11700345
kelas 2011 C
Topik : Hemophilia
Judul Jurnal : "Anti-Inhibitor Coagulant Complex
Prophylaxis in Hemophilia with Inhibitors"
nama : luh putu prisillia k devi
BalasHapusnpm : 11700401
kelas : 2011 C
topik : XY Female
judul : genetic analysis of a family with 46 XY female associated with infertility
Nama : Agung Rakhmawan
BalasHapusNPM : 11700343
Topik Jurnal : Fragile X Syndrome
judul jurnal : Fragile X Mental Retardation Protein Induces Synapse Loss
through Acute Postsynaptic Translational Regulation
NAMA : DIANA PRATIWI
BalasHapusNPM : 11700123
TOPIK JURNAL : XX MALE
JUDUL :SRY GENE AMPLIFICATIONS AND GENOTYPINGS REVEALED THE OCCURRENCE OF THE HIDDEN MATERNAL DECIDUAL CELLS IN 46,XX KARYOTYPED SPONTANEOUS ABORTIONS
Nama : Marco Filano
BalasHapusKelas : 2011 A
Npm : 11700097
Nomer urut : 44
Topik : Thalassemia Alfa
Jurnal :
1. Alpha thalassemia major - new mutations, intrauterine management, and outcomes
2. Alpha-thalassemia, Mental Retradation, and Myelodysplastic Syndrome
Nama : Renita Rizki A.
BalasHapusKelas : 2011 A
NPM : 11700253
Nomer Urut : 200
Topik : Becker Muscular Dystrophy
judul jurnal : Serum Transaminase Levels in Boys With Duchenne and Becker Muscular Dystrophy
Grasia RL
BalasHapus11700247
Topik : Becker Muscular Dystrophy
Judul Jurnal: The Diagnostic Value of Utrophin in Mild Dystrophinopathy
nama : jhelma amiko
BalasHapusnpm : 11700351
no.urut : 166
topik : hemofilia
judul : alternative strategies for gen therapy of hemophilia
ganti ini RIA PUJI PANGESTUTI 11700087
BalasHapusNOMOR URUT 39
TOPIK HEMOPHILIA
JUDUL Cost–utility analysis of prophylaxis versus
treatment on demand in severe hemophilia A
KALO ADA YG SAMA BURUAN BILANG!!!
gak jadi pakai yg diatas jadinya pake yg ini
HapusDirected Engineering of a High-expression
Chimeric Transgene as a Strategy for Gene
Therapy of Hemophilia A
Prabangkara D.B.S
BalasHapus11700399
XY Female
A novel SRY missense mutation affecting nuclear
import in a 46,XY female patient with bilateral
gonadoblastoma
DIANA PRATIWI
BalasHapus11700123
TOPIK :XX MALE
JUDUL : Severe XIST hypomethylation clearly distinguishes (SRYC)
46,XX-maleness from Klinefelter syndrome
aku ganti yang ini rek :)
DIANA PRATIWI
BalasHapus11700123
XX MALE
46,XX, der(15),t(Y;15)(q12;p11) karyotype in an
azoospermic male
maaf ganti terus rek,ada yg pake soalnya.hehehe
Nama : Pearl Dhodik Wirasman
BalasHapusNPM : 11700069
JURNAL : Cri du chat syndrome:a critical review
Topik : cri du chat syndrome
Maria Aurillia Lazuardi
BalasHapus11700125
46,XX Male – Testicular Disorder of
Sexual Differentiation (DSD): hormonal,
molecular and cytogenetic studies
topik: XX MALE
Nama : Angel Florence Teng
BalasHapusNPM : 11700129
Topik : XX Male
Judul: A case report of an XX male with complete masculinization but absence of the SRY gene
Nama : Veby Muhammadiyah
BalasHapusNPM : 11700217
topik : marfan syndrome
jurnal : Clinical and mutation-type analysis from an
international series of 198 probands with a
pathogenic FBN1 exons 24–32 mutation
Puri Rizdhiana
BalasHapus11700209
ALZHEIMER
1. Genetic counseling and testing for Alzheimer disease: Joint
practice guidelines of the American College of Medical Genetics
and the National Society of Genetic Counselors
2. Role of melatonin in Alzheimer-like neurodegeneration1
Nama : RHYCO ANDREAN
BalasHapusSUGIANTO PUTRA
Npm. : 11700039
No absen : 20
Topik : angelman syndrome
Judul : PHENOTYPIC
VARIABILITY IN
ANGELMAN SYNDROME
- REPORT OF TWO
CASES
NAMA : RHYCO ANDREAN SUGIANTO PUTRA
BalasHapusNPM : 11700039
NO : 20
TOPIK : ANGELMAN SYNDROME
JUDUL : PHENOTYPIC VARIABILITY IN ANGELMAN SYNDROME - REPORT OF TWO
CASES
RALAT
BalasHapusNI LUH AYU SUMBAWATI
11700305
2011C
TOPIK: ANGELMAN SYNDROME
JUDUL: ABNORMAL MYELINATION IN ANGELMAN SYNDROME
MAKASI....
NAMA:NURHAFIDA BINTI DARKUTNI
BalasHapusNPM:11700007
NO ABSEN:6
TOPIK : TURNER SYNDROME
JUDUL: Issues in prenatal counseling and
diagnosis in Turner Syndrome
AYU DWI HANDAYANI/11700075/FRAGILE X SYNDROME
BalasHapusJUDUL: "Expressive Language in Male Adolescents with Fragile X Syndrome with and without Comorbid Autism"
AKBAR HAMZAH PAMUNGKAS
BalasHapus2011 A / 11700213
JUDUL : Alzheimer
JURNAL : Variant of TREM2 Associated with the Risk of Alzheimer's Disease
I Gusti Ngurah Putu Sugiartha Putra
BalasHapusNpm : 11700225
judul : Striatal degeneration impairs language learning:
evidence from Huntington’s disease
ganti judul
HapusMorphology of the Cerebral Cortex
in Preclinical Huntington’s Disease
Nama: Gladwyn
BalasHapus11700373
topik: beta thalassaemia
judul: Renal complications in transfusion-dependent beta thalassaemia
judul: Pediatric Hematology Update on Thalassemia: Clinical Care and Complications
Hapusnama florentiana lydia raimanus
BalasHapusnpm 11700227
journal hungtington disease ; clinical review
link :http://www.ojrd.com/content/5/1/40
nama florentiana lydia raimanus
BalasHapusnpm 11700227
journal hungtington disease ; clinical review
link :http://www.ojrd.com/content/5/1/40
florentiana lydia raimanus
BalasHapus11700227
judul : The Patient Education Program for
Huntington’s Disease (PEP-HD)
muhammad praja pratama
BalasHapus11700397
xx male
judul: "Cytogenic and molecular analyses of 46,XX male
syndrome with clinical comparison to other groups
with testicular azoospermia of genetic origin"
monalyza anggraeni
11700289
turner syndrome
judul: "Precocious puberty in Turner Syndrome: report of
a case and review of the literature"
NAMA : SUWANTIN INDRA SARI
BalasHapusNPM : 11700077
NO. URUT : 34
TOPIK : FRAGILE X SYNDROME
JUDUL :Age-dependent cognitive changes in carriers
of the fragile X syndrome
Nama : Titin Aliyatur Rh
BalasHapusNpm : 11700275
Kelas : 2011c
Numor Urut : 130
Judul :
Prevalence of Iron Deficiency in Children with Down Syndrome
ini yg yang fix tak gunakan ya teman...
HapusNAMA: KADEK ADI SUHARSANA
BalasHapusNPM:11700147
TOPIK: CAH
JUDUL: APPROACH TO THE ADULT WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21- HYDROXYLASE DEFICIENCY
I Gusti Agung Ngurah Yoga Wiradharma
BalasHapus11700201
Theoretical aspects of autism: Causes—A review
Kadek Juliana Surya Putra
BalasHapus11700403
XY female
judul: XY females: revisiting the diagnosis
eka mei
BalasHapus11700311
angelman syndrome
jdl : Epilepsy in Korean patients with Angelman syndrome
INDAH AYU KARTIKASARI
BalasHapus11700371
Beta-Thalassemia Minor During Pregnancy
I GEDE ANDRIKA INDRAYOGA
11700369
RENAL FUNCTION IN PEDIATRIC PATIENTS WITH BETA-THALASSEMIA MAJOR
sama Beta thalassaemiatriat in western Nigeria
Hapuseka mei
BalasHapus11700311
angelman syndrome
Angelma n syndrome: advancing the research frontier
of neurodevelopm ental disorde rs
Nama : sherlyn puspitasari
BalasHapusNpm ; 11700255
No.urut ; 121
Topik ; Y chromosome microdeletion
Kelas : 2011 A
Judul : 2. Y chromosome microdeletions in infertile men with idiopathic oligo- or azoospermia
I Gusti Agung Ngurah Yoga Wiradharma
BalasHapus11700201
Coping over time: the parents of children with autism
I gusti ngurah putu sugiartha putra
BalasHapusNPM : 11700225
kelas : Apathy Is Not Depression
in Huntington’s Disease
I Made Putera Aditya
BalasHapus11700195
Parental Interest in a Genetic Risk Assessment Test for Autism Spectrum Disorders
I Made Dwi Laksemana Putra
BalasHapus1700197
The Pathogenesis of Autism
I GEDE SANJAYA
BalasHapus11700445
KARYOTYPE VERSUS MICROARRY TESTING FOR GENETIC ABNORMALITIES AFTER STILLBIRTH
ULFATUS SANGADAH SEPTIYANI
BalasHapus11700171
Association of Pericentric Inversion of Chromosome 9 and Infertility in Romanian Population
ULFATUS SANGADAH SEPTIYANI
BalasHapus11700171
ANENCEPHALY
Nama : I Made Eryana
BalasHapusNPM : 11700145
No Urut : 66
Topik : CONGENITAL ADRENAL HYPERPLASIA (CAH)
Judul : Normal Intelligence in Female andMale Patients with
Congenital Adrenal Hyperplasia
NAMA : AUKIA NINGGAR MONICA
BalasHapusNPM : 11700029
KELAS: 2011 A
NO. URUT : 15
TOPIK : KLINEFELTER SYNDROME
JUDUL :
1. Behavioral and Social Phenotypes in Boys With 47,XYY
Syndrome or 47,XXY Klinefelter Syndrome
2. Psychiatric Characteristics in a Self-Selected Sample
of Boys With Klinefelter Syndrome
NAMA : AULIA NINGGAR MONICA
BalasHapusNPM : 11700029
KELAS: 2011 A
NO. URUT : 15
TOPIK : KLINEFELTER SYNDROME
JUDUL :
1. Behavioral and Social Phenotypes in Boys With 47,XYY
Syndrome or 47,XXY Klinefelter Syndrome
2. Psychiatric Characteristics in a Self-Selected Sample
of Boys With Klinefelter Syndrome