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Mohamed S. Abdel Hamid

62

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Clinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients.

2021 Epilepsy Research
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Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

2020 BMC Medical Genomics
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Two Novel Variants in NLRP7 Gene in an Egyptian Female Patient with Consecutive Molar Pregnancies Complicated by Choriocarcinoma

2020 International Journal of Infertility and Fetal Medicine
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KBG syndrome in two patients from Egypt.

2020 American Journal of Medical Genetics Part A
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Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.

2020 Clinical Genetics
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Author response for "Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights"

2020
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Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families

2020
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Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

2020 American Journal of Medical Genetics Part A
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Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

2020 American Journal of Medical Genetics Part A
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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

2020 Neuron
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