MZ
Maha S. Zaki

Publications (4)

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
Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation
Article scientifique · 2017
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 biotechnologies3 Sciences de la santé1

Statistiques

Consultations8
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