The PTRHD1 Mutation in Intellectual Disability

Sara Cheraghi ^1,2 , Sahar Moghbelinejad ³, Hossein Najmabadi ⁴, Kimia Kahrizi ⁴, Reza Najafipour ⁴ *

Cited by CrossRef: 0

1- Gebert J, Brunet T, Wagner M, Rath J, Aull-Watschinger S, Pataraia E, Krenn M. A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism. Neuropediatrics. 2024; [Crossref]

2- Maryami F, Rismani E, Davoudi-Dehaghani E, Khalesi N, Talebi S, Mahdian R, Zeinali S. In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency. IBJ. 2023;27(5):307 [Crossref]

3- Gebert J, Brunet T, Wagner M, Rath J, Aull-Watschinger S, Pataraia E, Krenn M. A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism. Neuropediatrics. 2024; [Crossref]

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A Monthly Peer-Reviewed Medical Journal Published by the Academy of Medical Sciences of the I.R. Iran; Indexed in PubMed/MEDLINE, ISI Web of Science, EMBASE, SCOPUS, CINHAL, PASCAL, CSA, SID, ISSN: Print 1029-2977, Online 1735-3947.The impact factor of Archives of Iranian Medicine according to Journal Citation Reports® (JCR®) 2016 is 1.20.