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Molecular Biology Reports|June 15, 2023
An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophiesSahar Sabry, Mahmoud Y Issa, Mohamed S Abdel-Hamid, et al.
Journal of Molecular Neuroscience : MN|November 3, 2025
EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype CorrelationsSherif F Abdel-Ghafar, Amr E Ahmed, Eman T Mohammed, et al.
American Journal of Medical Genetics. Part A|October 18, 2011
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defectMaha S Zaki, Ghada M H Abdel Salam, Sahar N Saleem, et al.
The Journal of Pediatrics|September 2, 2021
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International SurveyAnnemiek M J van Wegberg, Friedrich Trefz, Maria Gizewska, et al.
Clinical Genetics|September 30, 2025
MINPP1-Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype DelineationSherif F Abdel Ghafar, Amr E Ahmed, Eman T Mohammed, et al.
American Journal of Medical Genetics. Part A|September 20, 2012
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)Ghada M H Abdel-Salam, Ashleigh E Schaffer, Maha S Zaki, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|July 27, 2005
Assessment of pubertal development in Egyptian girlsLaila A Hosny, Mona O El-Ruby, Moushira E Zaki, et al.
Journal of Molecular Neuroscience : MN|November 13, 2020
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational SpectrumKhalda Amr, Ekram Fateen, Lobna Mansour, et al.
Clinical Genetics|August 3, 2020
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insightsMohamed S Abdel-Hamid, Sherif F Abdel-Ghafar, Suzan R Ismail, et al.
European Journal of Pediatrics|March 11, 2026
Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variantsWessam Sharaf-Eldin, Raghda M Ghorab, Karima Rafat, et al.
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