MI
Mahmoud Y. Issa

Publications (4)

ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant
Article scientifique · 2025
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
Article scientifique · 2019
Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
Article scientifique · 2018
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
Article scientifique · 2016

Domaines principaux

Sciences de la vie et biotechnologies4

Statistiques

Consultations11
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