المؤلفون: Chelban, Viorica^{Aff1, Aff2, IDs41467024463540_cor1}, Aksnes, Henriette^{Aff3, IDs41467024463540_cor2}, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M. Natalia, Kaiyrzhanov, Rauan^{Aff1, Aff11}, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V.^{Aff1, Aff12, Aff13}, Morsy, Heba^{Aff1, Aff14}, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair T., Pennavaria, Ajia, Krogstad, Liv S., Bekkelund, Åse K., Caiella, Alessia, Glomnes, Nina^{Aff3, Aff16}, Brønstad, Kirsten M., Tury, Sandrine, Moreno De Luca, Andrés^{Aff18, Aff19}, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu^{Aff21, Aff22, Aff23}, Cretin, Benjamin^{Aff21, Aff22, Aff23}, Vona, Barbara^{Aff24, Aff25}, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra Hiz, Lochmuller, Hanns^{Aff31, Aff32, Aff33}, Da’as, Sahar I.^{Aff34, Aff35}, Fakhro, Khalid A.^{Aff34, Aff35, Aff36}, Gómez-Pascual, Alicia, Botía, Juan A., Wood, Nicholas W.^{Aff8, Aff38}, Horvath, Rita, Ernst, Andreas M.^{Aff4, Aff40}, Rothman, James E.^{Aff4, Aff10}, McEntagart, Meriel, Crow, Yanick J.^{Aff5, Aff42}, Alkuraya, Fowzan S.^{Aff7, Aff43}, Nicolas, Gaël, Arnesen, Thomas^{Aff3, Aff44, IDs41467024463540_cor59}, Houlden, Henry^{Aff1, Aff38, IDs41467024463540_cor60}

المصدر: Nature Communications. 15(1)

المؤلفون: Alshammari, Muneera J., Shamseldin, Hanan E., Essbaiheen, Fahad, Eltahir, Sara H., Alruwaili, Ashwag R., Abdulwahab, Firdous, Alkuraya, Fowzan S.^{Aff2, Aff5, IDs00439023026216_cor7}

المصدر: Human Genetics. 143(1):59-69

المؤلفون: Shamseldin, Hanan E., Sadagopan, Mukunth, Martini, Javier, Al-Ali, Ruslan, Radefeldt, Mandy, Ataei, Mojgan, Lemke, Sabrina, Rahbeeni, Zuhair, Al Mutairi, Fuad^{Aff4, Aff5}, Ababneh, Faroug^{Aff4, Aff5}, AlRukban, Hadeel A., Abdulwahab, Firdous, Alhajj, Saleh Mohammed, Bauer, Peter^{Aff2, Aff7}, Bertoli-Avella, Aida, Alkuraya, Fowzan S.^{Aff1, Aff8, IDs00439023025973_cor16}

المصدر: Human Genetics. 142(10):1491-1498

المؤلفون: AlAbdi, Lama^{Aff1, Aff2}, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Aljamal, Bayan, Alqahtani, Mashael, Almulhim, Aisha^{Aff1, Aff2}, Hamid, Halima^{Aff1, Aff2}, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Jaafar, Amal, Alshidi, Tarfa, Al-Owain, Mohammed^{Aff3, Aff4}, Alhashem, Amal^{Aff4, Aff5}, Al Tala, Saeed, Khan, Arif O.^{Aff7, Aff8}, Mardawi, Elham, Alkuraya, Hisham, Faqeih, Eissa, Afqi, Manal, Alkhalifi, Salwa, Rahbeeni, Zuhair, Hagos, Samya T., Al-Ahmadi, Wijdan, Nadeef, Seba, Maddirevula, Sateesh, Khabar, Khalid S. A., Putra, Alexander, Angelov, Angel, Park, Changsook, Reyes-Ramos, Ana M., Umer, Husen, Ullah, Ikram, Driguez, Patrick, Fukasawa, Yoshinori, Cheung, Ming Sin, Gallouzi, Imed Eddine^{Aff17, Aff18}, Alkuraya, Fowzan S.^{Aff2, Aff17, IDs13073023012708_cor39}

المصدر: Genome Medicine. 15(1)

المؤلفون: AlAbdi, Lama^{Aff1, Aff2}, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima^{Aff1, Aff2}, Almulhim, Aisha^{Aff1, Aff2}, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Alkuraya, Fowzan S.^{Aff2, Aff4, IDs41467023409093_cor17}

المصدر: Nature Communications. 14(1)

المؤلفون: Shamseldin, Hanan E., Derar, Nada, Alzaidan, Hamad, AlHathal, Naif, Alfalah, Abdullah, Abdulwahab, Firdous, Alzaid, Tariq, Alkeraye, Salim, Alobaida, Saud A., Alkuraya, Fowzan S.^{Aff1, Aff7, IDs00439023025273_cor10}

المصدر: Human Genetics. 142(4):477-482

المؤلفون: Wagner, Matias, Skorobogatko, Yuliya, Pode-Shakked, Ben, Powell, Cynthia M, Alhaddad, Bader, Seibt, Annette, Barel, Ortal, Heimer, Gali, Hoffmann, Chen, Demmer, Laurie A, Perilla-Young, Yezmin, Remke, Marc, Wieczorek, Dagmar, Navaratnarajah, Tharsini, Lichtner, Peter, Klee, Dirk, Shamseldin, Hanan E, Al Mutairi, Fuad, Mayatepek, Ertan, Strom, Tim, Meitinger, Thomas, Alkuraya, Fowzan S, Anikster, Yair, Saltiel, Alan R, Distelmaier, Felix

المصدر: American Journal of Human Genetics. 106(2)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Clinical Research, Neurosciences, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Genetics, Aetiology, 2.1 Biological and endogenous factors, Alleles, Cell Movement, Cell Proliferation, Child, Preschool, Family, Feeding and Eating Disorders, Female, GTPase-Activating Proteins, Humans, Infant, Male, Muscle Hypotonia, Mutation, Nerve Tissue Proteins, Neurodevelopmental Disorders, Phenotype, Spasms, Infantile, GARNL1, RalA signaling, TULIP1, West syndrome, epilepsy, muscular hypotonia, neurodevelopmental disorder, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2nj2r4kr

المؤلفون: Shamseldin, Hanan E., Alhashem, Amal, Tabarki, Brahim, Abdulwahab, Firdous, Hashem, Mais, Sougrat, Rachid, Alkuraya, Fowzan S.^{Aff1, Aff4, IDs0043902102378w_cor7}

المصدر: Human Genetics. 141(1):55-64

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المؤلفون: You, Mikyoung, Shamseldin, Hanan E., Fogle, Halle M., Rushing, Blake R., AlMalki, Reem H., Jaafar, Amal, Hashem, Mais, Abdulwahab, Firdous, Abdel Rahman, Anas M., Krupenko, Natalia I., Alkuraya, Fowzan S., Krupenko, Sergey A.

المصدر: Clinical Genetics; May2024, Vol. 105 Issue 5, p488-498, 11p

مصطلحات موضوعية: NICOTINAMIDE adenine dinucleotide phosphate, NEURAL development, METABOLOMICS, MISSENSE mutation, ENZYME metabolism, PHENOTYPES