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European Journal of Medical Genetics|January 17, 2016
c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafnessBehnam Safarpour Lima, Hamid Ghaedi, Narsis Daftarian, et al.
Molecular Neurobiology|March 5, 2016
RIT2 Polymorphisms: Is There a Differential Association?Babak Emamalizadeh, Javad Jamshidi, Abolfazl Movafagh, et al.
Clinical Genetics|September 3, 2025
Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 PatientsPegah Beheshti, Fahimeh Akbarian, Emran Esmaeilzadeh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2025
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsyRhys Dore, Chu-Ting Chang, Amber Declève, et al.
Molecular Neurobiology|May 15, 2017
A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene MutationsShaghayegh Taghavi, Rita Chaouni, Abbas Tafakhori, et al.
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