Výsledky vyhledávání - "Nursel H., Elçioğlu"

Akademický článek

A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia

Autor: Burcu Yeter, Ayca Dilruba Aslanger, Gözde Yeşil, Nursel H. Elçioğlu

Publikováno v: JCRPE, Vol 14, Iss 4, Pp 475-480 (2022)

Odontochondrodysplasia (ODCD, OMIM #184260) is a rare, non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis imp

Externí odkaz: https://doaj.org/article/6ee0abfd42034b1595eb07cb5439a834

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A Novel Mutation in the

Autor: Burcu, Yeter, Ayca, Dilruba Aslanger, Gözde, Yeşil, Nursel H., Elçioğlu

Publikováno v: Journal of clinical research in pediatric endocrinology. 14(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7894bc18496b7a9dcd87a89b9d6ef6ad
https://pubmed.ncbi.nlm.nih.gov/34111908

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Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study

Autor: Aida, Semiç-Jusufagiç, Rıfat, Bircan, Özhan, Çelebiler, Melike, Erdim, Nurten, Akarsu, Nursel H, Elçioğlu

Publikováno v: The Turkish journal of pediatrics. 54(6)

Two common MTHFR gene polymorphisms (C677T and A1298C) have been implicated in the etiology of nonsyndromic cleft lip/palate (nsCL/P). To investigate the genotype association among nsCL/P in the Turkish population, 56 case-parent trios were recruited

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::eeafbdbf7e9ce01ed13384d1a24f1e87
https://pubmed.ncbi.nlm.nih.gov/23692788

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