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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A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management
Elhossini, Rasha M., Sayed, Inas M., Hellal, Usama Saad, Mahmoud, Sarah A. M., Aglan, Mona S., Hassib, Nehal F., Abdel‐Hamid, Mohamed S.
Published in American journal of medical genetics. Part A (01.01.2024)
Published in American journal of medical genetics. Part A (01.01.2024)
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Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS
Zaki, Maha S., Sharaf‐Eldin, Wessam E., Rafat, Karima, Elbendary, Hasnaa M., Kamel, Mona, Elkhateeb, Nour, Noureldeen, Mahmoud M., Abdeltawab, Mohamed A., Sadek, Abdelrahim A., Essawi, Mona L., Lau, Tracy, Murphy, David, Abdel‐Hamid, Mohamed S., Holuden, Henry, Issa, Mahmoud Y., Gleeson, Joseph G.
Published in Clinical genetics (01.08.2023)
Published in Clinical genetics (01.08.2023)
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Journal Article
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
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
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
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
The Association Between Internet Gaming Disorder and Sensation Seeking Among Arab Adolescents
Hamid, Mohamed S., Abo Hamza, Eid, Hussain, Zaheer, AlAhmadi, Aisha
Published in Frontiers in psychiatry (15.07.2022)
Published in Frontiers in psychiatry (15.07.2022)
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Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing
Abdel-Hamid, Mohamed S, Abouzaid, Maha R, Mostafa, Mostafa I, Ahmed, Nermeen Eb
Published in Archives of oral biology (01.02.2024)
Published in Archives of oral biology (01.02.2024)
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Journal Article
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait
Abdel‐Salam, Ghada M. H., Duan, Ruizhi, Abdel‐Hamid, Mohamed S., Sayed, Inas S. M., Jhangiani, Shalini N., Khan, Ziad, Du, Haowei, Gibbs, Richard A., Posey, Jennifer E., Marafi, Dana, Lupski, James R.
Published in American journal of medical genetics. Part A (01.02.2022)
Published in American journal of medical genetics. Part A (01.02.2022)
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Journal Article
KBG syndrome in two patients from Egypt
Sayed, Inas S. M., Abdel‐Hamid, Mohamed S., Abdel‐Salam, Ghada M.H.
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
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive
Zaki, Maha S., Bhat, Gifty, Sultan, Tipu, Issa, Mahmoud, Jung, Hea-Jin, Dikoglu, Esra, Selim, Laila, G. Mahmoud, Imam, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada, Marin-Valencia, Isaac, Gleeson, Joseph G.
Published in Annals of neurology (01.07.2016)
Published in Annals of neurology (01.07.2016)
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Journal Article
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype
Abdel-Salam, Ghada M H, Abdel-Hamid, Mohamed S, Sayed, Inas S M, Zechner, Ulrich, Bolz, Hanno Jörn
Published in Journal of human genetics (01.01.2022)
Published in Journal of human genetics (01.01.2022)
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Journal Article
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability
Rafat, Karima, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M.H.
Published in Molecular syndromology (01.12.2023)
Published in Molecular syndromology (01.12.2023)
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Journal Article
Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum
Zaki, Maha S., Otaify, Ghada A., Ismail, Samira, Issa, Mahmoud Y., El‐Ruby, Mona O., Sadek, Abdelrahim A., Ashaat, Engy A., El Saeidi, Sonia A., Aglan, Mona S., Temtamy, Samia, Abdel‐Hamid, Mohamed S.
Published in American journal of medical genetics. Part A (01.12.2020)
Published in American journal of medical genetics. Part A (01.12.2020)
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Journal Article
ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype
Mahmoud, Iman G., Elmonem, Mohamed A., Zaki, Maha S., Ramadan, Areef, Al‐Menabawy, Nihal M., El‐Gamal, Aya, Mansour, Lobna, Issa, Mahmoud Y., Abdel‐Hamid, Mohamed S., Abdel‐Hady, Sawsan, Khalifa, Iman, Ibrahim, Ahmed, Solyom, Alexander, Rolfs, Arndt, Selim, Laila
Published in Clinical genetics (01.12.2020)
Published in Clinical genetics (01.12.2020)
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Journal Article
Expanding the phenotypic spectrum and clinical severity associated with WLS gene
Abdel-Salam, Ghada M H, Afifi, Hanan H, Abdel-Hamid, Mohamed S, Ahmed, Nermeen E B, Taher, Mohamed B, El-Kamah, Ghada, Thiele, Holger, Nürnberg, Peter N, Bolz, Hanno J
Published in Journal of human genetics (01.09.2023)
Published in Journal of human genetics (01.09.2023)
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