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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
العلاقة: https://doaj.org/toc/2379-3708Test
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2دورية أكاديمية
المؤلفون: Jo M Vanoevelen, Jörgen Bierau, Janine C Grashorn, Ellen Lambrichs, Erik-Jan Kamsteeg, Levinus A Bok, Ron A Wevers, Marjo S van der Knaap, Marianna Bugiani, Junmei Hu Frisk, Rita Colnaghi, Mark O'Driscoll, Debby M E I Hellebrekers, Richard Rodenburg, Carlos R Ferreira, Han G Brunner, Arthur van den Wijngaard, Ghada M H Abdel-Salam, Liya Wang, Constance T R M Stumpel
مصطلحات موضوعية: DTYMK, Genome instability, Nucleotide metabolism, Zebrafish, dTMPK
العلاقة: 10779/uos.23486570.v1; https://figshare.com/articles/journal_contribution/DTYMK_is_essential_for_genome_integrity_and_neuronal_survival/23486570Test
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3دورية 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
العلاقة: https://doaj.org/toc/2324-9269Test
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4دورية أكاديمية
المؤلفون: Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona K. Mekkawy, Sanha Moustafa Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada El‐Kamah, Ghada A. Otaify, Heba ElAwady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia A. Temtamy
مصطلحات موضوعية: Genomic Rearrangements and Copy Number Variations, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Genome Evolution and Polyploidy in Plants, Plant Science, Agricultural and Biological Sciences, CHARGE Syndrome and Related Genetic Disorders, Medicine, Health Sciences, Diagnostic Criteria, Trigonocephaly, Breakpoint, Hypotonia, Biology, Chromosome, Karyotype, Craniosynostosis, Gene
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5دورية 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
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2020.580484/fullTest; https://doaj.org/toc/1664-8021Test
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6
المؤلفون: Ghada M. H. Abdel‐Salam, Mohamed S. Abdel‐Hamid
المصدر: Clinical Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4b168e80f6fa694c8886f835d4119ff7Test
https://doi.org/10.1111/cge.14357Test -
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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)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7e3fa57f93748c9d68a11cc5e5f3ef2dTest
https://doi.org/10.1002/ajmg.a.63246Test -
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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)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1b778ab070cb00fbf0376671d8351815Test
https://doi.org/10.1038/s10038-023-01152-2Test -
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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)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::17c600588af1e1e76eb79b6da5a57639Test
https://doi.org/10.1002/ajmg.a.62561Test -
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::350ca219682e6eeb73fbde16905f38acTest
https://doi.org/10.1093/brain/awab403Test