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Mahmoud Reza Ashrafi
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Journal Articles

A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature

Available to Purchase
Subject Area:
Genetics
Ali Talea, Shiva Bayat, Golazin Shahbodagh Khan, Neda Pak, Solmaz Aziz-Ahari, Roya Sinaei, Ali Reza Tavasoli, Mahmoud Reza Ashrafi, Morteza Heidari
Journal: Molecular Syndromology
Mol Syndromol 1–8.
https://doi.org/10.1159/000542145
Published Online: 27 November 2024
View articletitled, A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature
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Journal Articles

TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2

Available to Purchase
Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Nahid Vafaei, Ali Mohebbi, Zahra Rezaei, Morteza Heidari, Sareh Hosseinpour, Ali Zare Dehnavi, Azin Ghamari, Masoud Salehipour, Ali Rabbani, Nejat Mahdieh, Mahmoud Reza Ashrafi
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (1): 30–36.
https://doi.org/10.1159/000534100
Published Online: 16 October 2023
View articletitled, TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2
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