Delineating the phenotype of PNPLA8‐related mitochondriopathies
Abdel‐Hamid, Mohamed S., Abdel‐Salam, Ghada M. H., Abdel‐Ghafar, Sherif F., Zaki, Maha S.
Published in Clinical genetics (01.01.2024)
Published in Clinical genetics (01.01.2024)
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Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum
Otaify, Ghada A., Abdel‐Hamid, Mohamed S., Hassib, Nehal F., Elhossini, Rasha M., Abdel‐Ghafar, Sherif F., Aglan, Mona S.
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
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Journal Article
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children
Elkhateeb, Nour, Issa, Mahmoud Y, Elbendary, Hasnaa M, Elnaggar, Walaa, Ramadan, Areef, Rafat, Karima, Kamel, Mona, Abdel-Ghafar, Sherif F, Amer, Fawzia, Hassaan, Hebatallah M, Trunzo, Roberta, Pereira, Catarina, Abdel-Hamid, Mohamed S, D'Arco, Felice, Bauer, Peter, Bertoli-Avella, Aida M, Girgis, Marian, Gleeson, Joseph G, Zaki, Maha S, Selim, Laila
Published in Clinical genetics (01.05.2024)
Published in Clinical genetics (01.05.2024)
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Journal Article
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights
Abdel‐Hamid, Mohamed S., Abdel‐Ghafar, Sherif F., Ismail, Suzan R., Desouky, Lubna M., Issa, Mahmoud Y., Effat, Laila K., Zaki, Maha S.
Published in Clinical genetics (01.11.2020)
Published in Clinical genetics (01.11.2020)
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Journal Article
CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum
Otaify, Ghada A., Elhossini, Rasha M., Abdel‐Ghafar, Sherif F., Sayed, Inas M., Abdel‐Salam, Ghada M. H., Aglan, Mona S., Abdel‐Hamid, Mohamed S.
Published in American journal of medical genetics. Part A (01.08.2023)
Published in American journal of medical genetics. Part A (01.08.2023)
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Journal Article
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification
El‐Dessouky, Sara H., Abdel‐Hamid, Mohamed S., Abdel‐Ghafar, Sherif F., Aboulghar, Mona M., Gaafar, Hassan M., Fouad, Mona, Ahmed, Adel H., Abdel‐Salam, Ghada M. H.
Published in Prenatal diagnosis (01.12.2020)
Published in Prenatal diagnosis (01.12.2020)
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Journal Article
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation
Abdel‐Salam, Ghada M. H., Sayed, Inas S. M., Afifi, Hanan H., Abdel‐Ghafar, Sherif F., Abouzaid, Maha R., Ismail, Samira I., Aglan, Mona S., Issa, Mahmoud Y., EL‐Bassyouni, Hala T., El‐Kamah, Ghada, Effat, Laila K., Eid, Maha, Zaki, Maha S., Temtamy, Samia A., Abdel‐Hamid, Mohamed S.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Journal Article
Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients’ management using bisphosphonates therapy
Abdel-Hamid, Mohamed S., Elhossini, Rasha M., Otaify, Ghada A., Abdel-Ghafar, Sherif F., Aglan, Mona S.
Published in Osteoporosis international (01.07.2022)
Published in Osteoporosis international (01.07.2022)
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Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings
Abdel-Salam, Ghada M H, Esmail, Asmaa, Nagy, Dina, Abdel-Ghafar, Sherif F, Abdel-Hamid, Mohamed S
Published in Journal of human genetics (17.10.2024)
Published in Journal of human genetics (17.10.2024)
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Journal Article
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Chai, Guoliang, Webb, Alice, Li, Chen, Antaki, Danny, Lee, Sangmoon, Breuss, Martin W., Lang, Nhi, Stanley, Valentina, Anzenberg, Paula, Yang, Xiaoxu, Marshall, Trevor, Gaffney, Patrick, Wierenga, Klaas J., Chung, Brian Hon-Yin, Tsang, Mandy Ho-Yin, Pais, Lynn S., Lovgren, Alysia Kern, VanNoy, Grace E., Rehm, Heidi L., Mirzaa, Ghayda, Leon, Eyby, Diaz, Jullianne, Neumann, Alexander, Kalverda, Arnout P., Manfield, Iain W., Parry, David A., Logan, Clare V., Johnson, Colin A., Bonthron, David T., Valleley, Elizabeth M.A., Issa, Mahmoud Y., Abdel-Ghafar, Sherif F., Abdel-Hamid, Mohamed S., Jennings, Patricia, Zaki, Maha S., Sheridan, Eamonn, Gleeson, Joseph G.
Published in Neuron (Cambridge, Mass.) (20.01.2021)
Published in Neuron (Cambridge, Mass.) (20.01.2021)
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Journal Article
Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature
Mazen, Inas H., El-Gammal, Mona A., Elaidy, Aya A., Anwar, Ghada M., Ashaat, Engy A., Abdel-Ghafar, Sherif F., Abdel-Hamid, Mohamed S.
Published in Molecular genetics and genomics : MGG (01.07.2023)
Published in Molecular genetics and genomics : MGG (01.07.2023)
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An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies
Sabry, Sahar, Issa, Mahmoud Y, Abdel-Hamid, Mohamed S, Eissa, Noura R, Abdel-Ghafar, Sherif F, Ibrahim, Mona M, Zaki, Maha S
Published in Molecular biology reports (01.08.2023)
Published in Molecular biology reports (01.08.2023)
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Journal Article
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects
Abdel-Hamid, Mohamed S, Issa, Mahmoud Y, Elbendary, Hasnaa M, Abdel-Ghafar, Sherif F, Rafaat, Karima, Hosny, Heba, Girgis, Marian, Abdel-Salam, Ghada M H, Zaki, Maha S
Published in Journal of human genetics (01.09.2019)
Published in Journal of human genetics (01.09.2019)
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Journal Article
Aicardi-Goutières syndrome: unusual neuro-radiological manifestations
Abdel-Salam, Ghada M. H., Abdel-Hamid, Mohamed S., Mohammad, Shaimaa A., Abdel-Ghafar, Sherif F., Soliman, Doaa R., EL-Bassyouni, Hala T., Effat, Laila, Zaki, Maha S.
Published in Metabolic brain disease (01.06.2017)
Published in Metabolic brain disease (01.06.2017)
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