Found: 5
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Nijmegen-Breakage Syndrome; Two Siblings Presenting with Different Phenotypes.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study.
- Published in:
- Turkish Journal of Pediatrics, 2012, v. 54, n. 6, p. 617
- By:
- Publication type:
- Article
A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 4, p. 475, doi. 10.4274/jcrpe.galenos.2021.2021.0099
- By:
- Publication type:
- Article
From cataract to syndrome diagnosis: Revaluation of Warburg‐Micro syndrome Type 1 patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2325, doi. 10.1002/ajmg.a.62234
- By:
- Publication type:
- Article
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2740, doi. 10.1002/ajmg.a.40662
- By:
- Publication type:
- Article