Výsledky vyhledávání - "Denisa Guraj"

Research Article A targeted NGS approach to identify a c.352C>G variant in the TWIST1 gene in an Albanian family with Saethre–Chotzen syndrome

Autor: Anila Babameto-Laku, Natale Capodicasa, Paolo Enrico Maltese, Matteo Bertelli, Francesca Fanelli, Elena Manara, ro Michelini, Bruno Amato, Denisa Guraj

Publikováno v: Genetics and Molecular Research. 16

A targeted next generation sequencing (NGS) approach analysing contemporaneously 20 different genes mainly involved in craniosynostosis was adopted to molecularly diagnose the family of a 2-years old girl affected by Saethre–Chotzen syndrome, a syn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8eb2ec2d03fe97977a9ac6f63b91ccca
https://doi.org/10.4238/gmr16039828

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