Výsledky vyhledávání - "Mana Khojasteh"

Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review

Autor: Aida Ghasemi, Ali Reza Tavasoli, Mana Khojasteh, Mohammad Rohani, Afagh Alavi

Publikováno v: Molecular Syndromology. :1-11

Introduction: Homozygous and compound heterozygous variants in GJC2, the gene encoding connexin-47 protein, cause Pelizaeus-Merzbacher-like disease type 1 or hypomyelinating leukodystrophy 2 (HLD2), a severe infantile-onset hypomyelinating leukodystr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4e51586fa0c52755783874ea5693fdbf
https://doi.org/10.1159/000529678

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Akademický článek

Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.

Autor: Ghasemi, Aida, Tavasoli, Ali Reza, Khojasteh, Mana, Rohani, Mohammad, Alavi, Afagh

Publikováno v: Molecular Syndromology; 2023, Vol. 14 Issue 5, p405-415, 11p

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Periodical

Studies from University of Social Welfare & Rehabilitation Sciences Reveal New Findings on Hereditary Spastic Paraplegia (Description of Phenotypic Heterogeneity In a gjc2-related Family and Literature Review).

Publikováno v: Health & Medicine Week; 12/6/2024, p7261-7261, 1p

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Periodical

Reports from University of Social Welfare & Rehabilitation Sciences Highlight Recent Findings in Life Science (Description of Phenotypic Heterogeneity In a Gjc2-related Family and Literature Review).

Publikováno v: Health & Medicine Week; 5/19/2023, p4278-4278, 1p

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