Found: 8
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SMA Genetics and Genetic Counseling.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 9
- By:
- Publication type:
- Article
An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 3, p. 285, doi. 10.4274/jcrpe.galenos.2023.2022-11-3
- By:
- Publication type:
- Article
A Novel PHEX Mutation in A Case Followed Up with A Diagnosis of X-linked Hypophosphatemic Rickets.
- Published in:
- Journal of Current Pediatrics / Guncel Pediatri, 2023, v. 21, n. 1, p. 98, doi. 10.4274/jcp.2022.83435
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- Publication type:
- Article
Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas.
- Published in:
- Türkiye Klinikleri Journal of Case Reports, 2022, v. 30, n. 2, p. 136, doi. 10.5336/caserep.2021-86997
- By:
- Publication type:
- Article
Natural selection at work? Vitamin D deficiency rates and rising health problems in young Turkish Cypriot professionals.
- Published in:
- 2021
- By:
- Publication type:
- journal article
FREQUENCY AND DISTRIBUTION OF MEFV GENE MUTATION IN FAMILIAL MEDITERRANEAN FEVER PATIENTS: A SINGLE CENTER EXPERIENCE.
- Published in:
- Medical Journal of Suleyman Demirel University, 2021, v. 28, n. 1, p. 135, doi. 10.17343/sdutfd.741507
- By:
- Publication type:
- Article
A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.
- Published in:
- Cell & Tissue Research, 2019, v. 378, n. 2, p. 267, doi. 10.1007/s00441-019-03077-9
- By:
- Publication type:
- Article
The association between the chromosome 9p21 CDKN2B-AS1 gene variants and the lipid metabolism: A pre-diagnostic biomarker for coronary artery disease.
- Published in:
- Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2019, v. 21, n. 1, p. 31, doi. 10.14744/AnatolJCardiol.2018.90907
- By:
- Publication type:
- Article