KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases
Borlot, Felippe, Abushama, Ahmed, Morrison‐Levy, Nadine, Jain, Puneet, Puthenveettil Vinayan, Kollencheri, Abukhalid, Musaad, Aldhalaan, Hesham M., Almuzaini, Hanin S., Gulati, Sheffali, Hershkovitz, Tova, Konanki, Ramesh, Lingappa, Lokesh, Luat, Aimee F., Shafi, Shatha, Tabarki, Brahim, Thomas, Maya, Yoganathan, Sangeetha, Alfadhel, Majid, Arya, Ravindra, Donner, Elizabeth J., Ehaideb, Salleh N., Gowda, Vykuntaraju K., Jain, Vivek, Madaan, Priyanka, Myers, Kenneth A., Otsubo, Hiroshi, Panda, Prateek, Sahu, Jitendra K., Sampaio, Letícia P. B., Sharma, Suvasini, Simard‐Tremblay, Elisabeth, Zak, Maria, Whitney, Robyn
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Published in Epilepsia (Copenhagen) (01.04.2020)
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Genetics of ataxia telangiectasia in a highly consanguineous population
Al‐Muhaizea, Mohammed A., Aldeeb, Hanouf, Almass, Rawan, Jaber, Hadeel, Binhumaid, Felwa, Alquait, Laila, Abukhalid, Musaad, Aldhalaan, Hesham, Alsagob, Maysoon, Al‐Bakheet, Albandary, Aldosary, Mazhor, Alkofide, Hadeel, Alrasheed, Maha M., Colak, Dilek, Kaya, Namik
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KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon
Almannai, Mohammed, AlAbdi, Lama, Maddirevula, Sateesh, Alotaibi, Maha, Alsaleem, Badr M., Aljadhai, Yaser I., Alsaif, Hessa S., Abukhalid, Musaad, Alkuraya, Fowzan S
Published in Human genetics (01.03.2023)
Published in Human genetics (01.03.2023)
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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
AlAbdi, Lama, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima, Almulhim, Aisha, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Alkuraya, Fowzan S.
Published in Nature communications (29.08.2023)
Published in Nature communications (29.08.2023)
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Hereditary Hyperekplexia in Saudi Arabia
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Published in Pediatric neurology (01.09.2022)
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Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Thomas, Huw B, Demain, Leigh A M, Cabrera-Orefice, Alfredo, Schrauwen, Isabelle, Shamseldin, Hanan E, Rea, Alessandro, Bharadwaj, Thashi, Smith, Thomas B, Oláhová, Monika, Thompson, Kyle, He, Langping, Kaur, Namanpreet, Shukla, Anju, Abukhalid, Musaad, Ansar, Muhammad, Rehman, Sakina, Riazuddin, Saima, Abdulwahab, Firdous, Smith, Janine M, Stark, Zornitza, Carrera, Samantha, Yue, Wyatt W, Munro, Kevin J, Alkuraya, Fowzan S, Jamieson, Peter, Ahmed, Zubair M, Leal, Suzanne M, Taylor, Robert W, Wittig, Ilka, O'Keefe, Raymond T, Newman, William G
Published in medRxiv : the preprint server for health sciences (11.10.2024)
Published in medRxiv : the preprint server for health sciences (11.10.2024)
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