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Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|January 22, 2020
Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analysesBahareh Rabbani, Mohammad Kazem Bakhshandeh, Mohammad Reza Navaeifar, et al.Advanced Biomedical Research|April 22, 2016
Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarcheMahsa Kolahdouz, Mahin Hashemipour, Hossein Khanahmad, et al.International Journal of Endocrinology|July 28, 2020
p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature PubarcheMahdieh Soveizi, Nejat Mahdieh, Aria Setoodeh, et al.Journal of Clinical Laboratory Analysis|March 2, 2018
Genotypic effect of a mutation of the MYBPC3 gene and two phenotypes with different patterns of inheritanceNejat Mahdieh, Maryam Hosseini Moghaddam, Mahsa Motavaf, et al.Clinical Laboratory|November 21, 2012
A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changesBahareh Rabbani, Nejat Mahdieh, Fatemeh Sayarifar, et al.Hemoglobin|April 11, 2017
The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, IranMasoumeh Jalilian, Farid Azizi Jalilian, Leila Ahmadi, et al.Molecular Genetics and Metabolism Reports|September 16, 2024
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 geneSetila Dalili, Nasrin Sedighi Pirsaraei, Ameneh Sharifi, et al.Clinical Neurology and Neurosurgery|January 1, 2021
Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicityNejat Mahdieh, Ameneh Sharifi, Ali Rabbani, et al.Clinical Case Reports|March 9, 2026
A Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M SyndromeMaryam Arefzadeh, Bahareh Rabbani, Saeideh Abdolahpour, et al.Molecular Genetics & Genomic Medicine|November 11, 2025
An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian GirlSetila Dalili, Seyyedeh Azade Hoseini Nouri, Ameneh Sharifi, et al.Pageof 5