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1دورية أكاديمية
المؤلفون: Ghada M. H. Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ann-Sophie Pabst, Maha M. Eid, Holger Thiele, Peter Nürnberg, Birgit S. Budde, Mohammad Reza Toliat, Ines B. Brecht, Christopher Schroeder, Axel Gschwind, Stephan Ossowski, Friederike Häuser, Heidi Rossmann, Mohamed S. Abdel-Hamid, Ibrahim Hegazy, Ahmed G. Mohamed, Dominik T. Schneider, Aida Bertoli-Avella, Peter Bauer, Jillian N. Pearring, Rolph Pfundt, Alexander Hoischen, Christian Gilissen, Dennis Strand, Ulrich Zechner, Soha A. Tashkandi, Eissa A. Faqeih, Olaf Stemmann, Susanne Strand, Hanno J. Bolz
المصدر: JCI Insight, Vol 8, Iss 22 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2379-3708
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2دورية أكاديمية
المؤلفون: Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
مصطلحات موضوعية: 9p deletion, ambiguous genitalia, autism, brain anomalies, trigonocephaly, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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3دورية أكاديمية
المؤلفون: Sateesh Maddirevula, Hanan E. Shamseldin, Amy Sirr, Lama AlAbdi, Russell S. Lo, Nour Ewida, Mashael Al-Qahtani, Mais Hashem, Firdous Abdulwahab, Omar Aboyousef, Namik Kaya, Dorota Monies, May H. Salem, Naffaa Al Harbi, Hesham M. Aldhalaan, Hamad Alzaidan, Hadeel M. Almanea, Abrar K. Alsalamah, Fuad Al Mutairi, Samira Ismail, Ghada M. H. Abdel-Salam, Amal Alhashem, Ali Asery, Eissa Faqeih, Amal AlQassmi, Waleed Al-Hamoudi, Talal Algoufi, Mohammad Shagrani, Aimée M. Dudley, Fowzan S. Alkuraya
المصدر: Frontiers in Genetics, Vol 11 (2020)
مصطلحات موضوعية: autozygosity, diabetes, yeast, founder mutation, disease-gene associations, Genetics, QH426-470
وصف الملف: electronic resource
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4
المؤلفون: Ghada M. H. Abdel‐Salam, Mohamed S. Abdel‐Hamid
المصدر: Clinical Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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5
المؤلفون: Ghada A. Otaify, Rasha M. Elhossini, Sherif F. Abdel‐Ghafar, Inas M. Sayed, Ghada M. H. Abdel‐Salam, Mona S. Aglan, Mohamed S. Abdel‐Hamid
المصدر: American Journal of Medical Genetics Part A.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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6
المؤلفون: Ghada M. H. Abdel-Salam, Hanan H. Afifi, Mohamed S. Abdel-Hamid, Nermeen E. B. Ahmed, Mohamed B. Taher, Ghada El-Kamah, Holger Thiele, Peter N. Nürnberg, Hanno J. Bolz
المصدر: Journal of Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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7
المؤلفون: Shalini N. Jhangiani, Ziad Khan, Richard A. Gibbs, Mohamed Abdelhamid, Inas S. M. Sayed, James R. Lupski, Dana Marafi, Jennifer E. Posey, Ghada M H Abdel-Salam, Haowei Du, Ruizhi Duan
المصدر: American Journal of Medical Genetics Part A. 188:648-657
مصطلحات موضوعية: Genetics, Nonsense-mediated decay, Biology, medicine.disease, Microphthalmia, Phenotype, Stop codon, Neurodevelopmental disorder, medicine, Allele, Kinase activity, Exome, Genetics (clinical)
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المؤلفون: Christian Casar, Maja Hempel, Frederike L. Harms, Pauline E. Schneeberger, Kerstin Kutsche, Malik Alawi, Maha S. Zaki, Minyue Qi, Xiaoxu Yang, Valentina Stanley, Leonie von Elsner, Ghada M H Abdel-Salam, Joseph G. Gleeson, Guoliang Chai, Florian Arndt
المصدر: Brain
Brain : a journal of neurology, vol 145, iss 4مصطلحات موضوعية: Microcephaly, Spliceosome, Intellectual and Developmental Disabilities (IDD), Biology, homozygous, Medical and Health Sciences, Conserved sequence, splicing, Rare Diseases, Clinical Research, Transcription (biology), Intellectual Disability, Genetics, medicine, 2.1 Biological and endogenous factors, Humans, splice, Aetiology, Growth Disorders, Alleles, Exome sequencing, Neurology & Neurosurgery, Psychology and Cognitive Sciences, Neurosciences, Membrane Proteins, Nuclear Proteins, RNA-Binding Proteins, Syndrome, medicine.disease, Brain Disorders, DNA-Binding Proteins, Repressor Proteins, major spliceosome, Neurodevelopmental Disorders, RNA splicing, Original Article, RNA Splice Sites, Neurology (clinical), exome sequencing, Nuclear localization sequence
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::350ca219682e6eeb73fbde16905f38ac
https://doi.org/10.1093/brain/awab403 -
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المؤلفون: Sahar Sabry, Sara H. El‐Dessouky, Sherif F. Abdel‐Ghafar, Ghada M H Abdel-Salam, Mohamed Abdelhamid
المصدر: neurogenetics. 22:287-295
مصطلحات موضوعية: Genetics, Microcephaly, Cerebellar ataxia, Genetic disorder, Biology, medicine.disease, Phenotype, Human genetics, Frameshift mutation, Cellular and Molecular Neuroscience, Genotype, medicine, Missense mutation, medicine.symptom, Genetics (clinical)
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المؤلفون: Ghada M. H. Abdel-Salam, Marian Girgis, Maha M. Eid, Inas S. M. Sayed, Mohamed S. Abdel-Hamid
المصدر: Journal of human genetics. 67(11)
مصطلحات موضوعية: Cerebellum, Developmental Disabilities, Genetics, Microcephaly, Animals, Child, Nervous System Malformations, Lissencephaly, Genetics (clinical)