Found: 7
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Clinical Exome Sequencing in Syndromic Epilepsy Patients Evaluation of Analysis Results.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 44
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- Article
Coffin Siris Syndrome with Corpus Callosum Agenesia.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 47
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- Article
A Rare Case Report of Two Siblings: A Novel GRIN1 Variant.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 48
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- Article
Insensitivity to Pain, Congenital, with Anhidrosis (CIPA): Presentation of 2 Siblings.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 55
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- Article
Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf‐Yang syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 127, doi. 10.1111/cge.14320
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- Article
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia.
- Published in:
- Journal of Medical Virology, 2023, v. 95, n. 2, p. 1, doi. 10.1002/jmv.28457
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- Article
Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 179, doi. 10.1159/000513611
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- Article