Found: 13
Select item for more details and to access through your institution.
Fetal Hand Anomalies: 18 Cases Diagnosed Between 2020-2022 from a Single Tertiary Care Center.
- Published in:
- Experimed, 2022, v. 12, n. 3, p. 149, doi. 10.26650/experimed.1188882
- By:
- Publication type:
- Article
A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys).
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 175, doi. 10.1159/000527149
- By:
- Publication type:
- Article
Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNA<sup>Lys</sup> Gene.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 305, doi. 10.1159/000519526
- By:
- Publication type:
- Article
CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022, v. 85, n. 4, p. 501, doi. 10.26650/IUITFD.1130578
- By:
- Publication type:
- Article
GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022, v. 85, n. 2, p. 162, doi. 10.26650/IUITFD.1011501
- By:
- Publication type:
- Article
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.
- Published in:
- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10
- By:
- Publication type:
- Article
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.
- Published in:
- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10
- By:
- Publication type:
- Article
Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 126, doi. 10.1159/000531113
- By:
- Publication type:
- Article
CD59 ile İlişkili Tekrarlayan Polinöropati ve Hedefe Yönelik Eculizimab Tedavisi.
- Published in:
- Gazi Medical Journal, 2019, v. 30, n. 4a, p. P4
- By:
- Publication type:
- Article
Clinical and molecular findings in 6 Turkish cases with Krabbe disease.
- Published in:
- Turkish Journal of Pediatrics, 2022, v. 64, n. 1, p. 69, doi. 10.24953/turkjped.2020.3713
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
First Observation of Hb South Florida [beta 1(NA1) Val>Met] in Turkey.
- Published in:
- 2013
- By:
- Publication type:
- Letter
LİZENSEFALİ SPEKTRUMU OLGULARINDA GENOTİP-FENOTİP İLİŞKİSİ.
- Published in:
- Journal of Advanced Research in Health Sciences (JARHS) / Sağlık Bilimlerinde İleri Araştırmalar Dergisi (SABİAD), 2022, v. 5, n. 3, p. 160, doi. 10.26650/JARHS2022-1107813
- By:
- Publication type:
- Article