Found: 18
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A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 206, doi. 10.1159/000519557
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- Article
Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey.
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- Molecular Syndromology, 2020, v. 11, n. 4, p. 183, doi. 10.1159/000509838
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- Publication type:
- Article
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.
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- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10
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- Article
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.
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- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10
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- Publication type:
- Article
Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 201, doi. 10.1111/cge.14177
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- Article
A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation.
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- 2014
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- Publication type:
- Case Study
JAG1 MUTATION SPECTRUM IN CASES WITH ALAGILLE SYNDROME FROM TURKIYE.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2023, v. 86, n. 4, p. 327, doi. 10.26650/IUITFD.1321220
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- Article
CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE.
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- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022, v. 85, n. 4, p. 501, doi. 10.26650/IUITFD.1130578
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- Article
FETAL BRAIN SHRINKAGE: A RARE, MYSTIFYING ANOMALY.
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- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2019, v. 82, n. 2, p. 123, doi. 10.26650/IUITFD.2018.0008
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- Article
SENDROMİK VE NON-SENDROMİK KRANİYOSİNOSTOZ OLGULARINDA FGFR1-3, TWIST1, MSX2, POR, FREM1 VE RAB23 GENLERİNİN MOLEKÜLER ANALİZİ.
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- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2019, v. 82, n. 2, p. 116, doi. 10.26650/IUITFD.422258
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- Publication type:
- Article
PRENATAL DÖNEMDE TANI KOYULAN İZOLE YARIK EL/ AYAK MALFORMASYONU.
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- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2018, v. 81, n. 1, p. 37
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- Publication type:
- Article
RADİYAL IŞIN DEFEKTLERİNİN KLİNİK SINIFLANDIRMASI VE ETYOPATOGENEZİNİN ARAŞTIRILMASI.
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- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2018, v. 81, n. 4, p. 127, doi. 10.26650/IUITFD.427250
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- Publication type:
- Article
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3729, doi. 10.1093/hmg/ddac120
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- Publication type:
- Article
Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
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- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2021, v. 17, n. 3, p. 240, doi. 10.4274/tnd.2021.91298
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- Article
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2488, doi. 10.1002/ajmg.a.62261
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- Article
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency.
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- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 4, p. 338, doi. 10.4274/jcrpe.galenos.2023.2023-4-4
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- Article
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
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- Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 2, p. 153, doi. 10.4274/jcrpe.galenos.2022.2021-9-19
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- Article
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations.
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- Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 3, p. 206, doi. 10.4274/jcrpe.0032
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- Publication type:
- Article