MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
Heba Ragab Morsy, Hyeonho Kim, Gyubin Jang, Maha S. Zaki et autres
1 citationThe American Journal of Human Genetics
Marwa Abd Elmaksoud
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32Publications signalées
211Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesEpilepsy research and treatmentRNA modifications and cancerRNA regulation and disease
Publications récentes
Whey-Based Partially Hydrolyzed Formula Versus Polymeric Formula On Undernourished Neurologically Impaired Children: Open-Label Randomized Study
Aml Mahfouz, Ahmed F. Khalil, Sara T. Olalla Saad, Marwa Abd Elmaksoud
0 citationsResearch Square
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
Heba Morsy, H. J. Kim, Gyubin Jang, Maha S. Zaki et autres
0 citationsmedRxiv
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing
Asmaa K. Amin, Sara H. El‐Dessouky, Marwa Abd Elmaksoud, Amira Nabil et autres
3 citationsClinical Genetics
Author response for "Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing"
Asmaa K. Amin, Sara H. El‐Dessouky, Marwa Abd Elmaksoud, Amira Nabil et autres
0 citations
PREVELANCE AND CLINICAL CHARACTERISTICS OF SOME NEURODEVELOPMENTAL DISORDERS AMONG CHILDREN AT ALEXANDRIA UNIVERSITY CHILDREN’S HOSPITAL
Mir Nesaruddin Ahmed, Mervat Abu-Nazel, Marwa Abd Elmaksoud
0 citationsALEXMED ePosters
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases
Natalia Juliá‐Palacios, Gerard Muñoz‐Pujol, Reza Maroofian, Aida M. Bertoli‐Avella et autres
4 citationsBrain Communications
CLINICAL AND MOLECULAR CHARACTERISATION OF SLC31A1-RELATED NEURODEVELOPMENTAL DISORDER.
Natalia Juliá‐Palacios, Reza Maroofian, Aida M. Bertoli‐Avella, Marta Gómez‐Chiari et autres
0 citationsmedRxiv
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Elisa Calì, Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou et autres
4 citationsGenetics in Medicine
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah et autres
7 citationsNature Communications
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
Tess Holling, Ibrahim M. Abdelrazek, Ghada M. Elhady, Marwa Abd Elmaksoud et autres
4 citationsJournal of Human Genetics
Adapting Evidence-Based Practice Guidelines for Emergency Management of Seizures in Children Beyond the Neonatal Period
Ashraf Abdel Baky, Ashraf Al Refaei, Ebtesam El Melegy, Hayam Tantawi et autres
1 citationPediatric Neurology
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