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Metabolic Brain Disease|February 24, 2017
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataractMohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, et al.Gene|February 18, 2014
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephalySamira Ismail, Ashleigh E Schaffer, Rasim O Rosti, et al.American Journal of Medical Genetics. Part A|October 18, 2008
Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndromeGhada M H Abdel-Salam, Maha S Zaki, Sahar N Saleem, et al.American Journal of Medical Genetics. Part A|January 11, 2016
Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplicationsMona K Mekkawy, Inas M Mazen, Alaa K Kamel, et al.Journal, Genetic Engineering & Biotechnology|March 11, 2022
Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patientsWessam E Sharaf-Eldin, Mahmoud Y Issa, Maha S Zaki, et al.Clinical Genetics|September 6, 2023
Delineating the phenotype of PNPLA8-related mitochondriopathiesMohamed S Abdel-Hamid, Ghada M H Abdel-Salam, Sherif F Abdel-Ghafar, et al.Italian Journal of Pediatrics|June 13, 2025
The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variantsMahmoud M Noureldeen, Maha S Zaki, Karima Rafat, et al.American Journal of Human Genetics|December 29, 2015
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile EncephalopathyHanan E Shamseldin, Eissa Faqeih, Ali Alasmari, et al.BMC Medicine|July 17, 2024
Is trofinetide a future treatment for Rett syndrome? A comprehensive systematic review and meta-analysis of randomized controlled trialsHazem E Mohammed, Zeyad Bady, Mohamed E Haseeb, et al.Cytogenetic and Genome Research|October 2, 2018
Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital AnomaliesAmal Mahmoud Mohamed, Maha S Zaki, Alaa K Kamel, et al.Pageof 25