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Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep in Saudi Arabia: Electroclinical, etiologic, genetic, and outcome multicenter study.
Alsini H, Alghamdi A, Alshafi S, Hundallah K, Almehmadi S, Alsowat D, Al-Yamani S, Almuzaini H, Alwadie A, Al-Otaibi A, Jad L, Almadhi A, Bashiri F, Kentab A, Hamad MH, Baarmah D, Alrifaie M, Almuqbel M, Baradie RA, Meer A, Jan M, Muthaffar O, Aljabri M, Ali E, Saeed M, Matar A, Tabarki B. Alsini H, et al. Seizure. 2023 Apr;107:146-154. doi: 10.1016/j.seizure.2023.04.013. Epub 2023 Apr 13. Seizure. 2023. PMID: 37062196 Free article.
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE, AlAbdi L, Maddirevula S, Alsaif HS, Alzahrani F, Ewida N, Hashem M, Abdulwahab F, Abuyousef O, Kuwahara H, Gao X; Molecular Autopsy Consortium; Alkuraya FS. Shamseldin HE, et al. Genome Med. 2021 Oct 13;13(1):161. doi: 10.1186/s13073-021-00973-0. Genome Med. 2021. PMID: 34645488 Free PMC article.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
Collier JJ, Guissart C, Oláhová M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schöls L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW. Collier JJ, et al. Among authors: alyamani s. N Engl J Med. 2021 Jun 24;384(25):2406-2417. doi: 10.1056/NEJMoa1915722. N Engl J Med. 2021. PMID: 34161705 Free PMC article.
18 results