PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
Shaheen, Ranad, Tasak, Monika, Maddirevula, Sateesh, Abdel-Salam, Ghada M. H., Sayed, Inas S. M., Alazami, Anas M., Al-Sheddi, Tarfa, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S.
Published in Human genetics (01.03.2019)
Published in Human genetics (01.03.2019)
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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
Gene Mutations of the Three Ectodysplasin Pathway Key Players ( EDA , EDAR , and EDARADD ) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations
Ahmed, Hoda A, El-Kamah, Ghada Y, Rabie, Eman, Mostafa, Mostafa I, Abouzaid, Maha R, Hassib, Nehal F, Mehrez, Mennat I, Abdel-Kader, Mohamed A, Mohsen, Yasmine H, Zada, Suher K, Amr, Khalda S, Sayed, Inas S M
Published in Genes (08.09.2021)
Published in Genes (08.09.2021)
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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
Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies
Abdel-Salam, Ghada M.H., Afifi, Hanan H., Saleem, Sahar N., Gadelhak, Mohamed I., El-Serafy, Manar A., Sayed, Inas S.M., Abdel-Hamid, Mohamed S.
Published in Molecular syndromology (01.12.2022)
Published in Molecular syndromology (01.12.2022)
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Journal Article
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity
Rabie, Eman A, Sayed, Inas S M, Amr, Khalda, Ahmed, Hoda A, Mostafa, Mostafa I, Hassib, Nehal F, El-Sayed, Heba, Zada, Suher K, El-Kamah, Ghada
Published in Genes (13.06.2022)
Published in Genes (13.06.2022)
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Journal Article
Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features
Zaki, Maha S, Eid, Ola M, Eid, Maha M, Mohamed, Amal M, Sayed, Inas S M, Abdel-Hamid, Mohamed S, Abdel-Salam, Ghada M H
Published in Cytogenetic and genome research (01.01.2019)
Published in Cytogenetic and genome research (01.01.2019)
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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
Phenotypic and molecular insights into PQBP1‐related intellectual disability
Abdel‐Salam, Ghada M. H., Miyake, Noriko, Abdel‐Hamid, Mohamed S., Sayed, Inas S. M., Gadelhak, Mohamed I., Ismail, Samira I., Aglan, Mona S., Afifi, Hanan H., Temtamy, Samia A., Matsumoto, Naomichi
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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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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