Výsledky vyhledávání - "Mahzad Nasirshalal"

Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next‐generation sequencing

Autor: Hamzeh Salmani, Mahzad Nasirshalal, Mohammad Panahi, Nahid Javanshir

Publikováno v: Journal of Clinical Laboratory Analysis

Background Waardenburg syndrome (WS) is a genetically heterogeneous syndrome with both autosomal recessive and dominant inheritance. WS causes skin and iris pigmentation accumulation and sensorineural hearing loss, in varying degrees. There are four

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::824f6f8796d1f6a1c879d192db07e40f
https://doi.org/10.1002/jcla.23792

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Identification of the PRM1 gene mutations in oligoasthenoteratozoospermic men

Autor: Mohammadreza Dadfar, Pegah Ghandil, Roshan Nikbakht, Maryam Tahmasebi-Birgani, Mahzad Nasirshalal, Alihossein Saberi

Publikováno v: Andrologia. 52

Mutations or altered expression of PRM1 gene have been associated with male infertility. This study aimed to analyse pathogenic variations of PRM1 gene in Iranian Arab infertile men with oligoasthenoteratozoospermia that was carried out for the first

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d67d7b507f1f690dabdd1970d13fd50
https://doi.org/10.1111/and.13872

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