Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report

por RAZIPOUR, Masoumeh, KOOSHAVAR, Daniz, ALAVINEJAD, Elaheh, SAJEDI, Seyede Zahra, MOHAJER, Neda, SETOODEH, Aria, TALEBI, Saeed, KERAMATIPOUR, Mohammad
Publicado 2017

A Novel Variant in the PAH Gene Causing Phenylketonuria in an Iranian Pedigree

por Alavinejad, Elaheh, Sajedi, Seyede Zahra, Razipour, Masoumeh, Entezam, Mona, Mohajer, Neda, Setoodeh, Aria, Talebi, Saeed, Keramatipour, Mohammad
Publicado 2017

Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene

por Zahedi Abghari, Fateme, Bayat, Fatemeh, Razipour, Masoumeh, Karimipoor, Morteza, Taghavi-Basmenj, Maryam, Zeinali, Sirous, Davoudi-Dehaghani, Elham
Publicado 2019

An Efficient Trio-Based Mini-Haplotyping Method for Genetic Diagnosis of Phenylketonuria

por Talebi, Saeed, Entezam, Mona, Mohajer, Neda, Kazemi-sefat, Golnaz-Ensieh, Razipour, Masoumeh, Ahmadloo, Somayeh, Setoodeh, Aria, Keramatipour, Mohammad
Publicado 2016