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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
AlAbdi L, Shamseldin HE, Khouj E, Helaby R, Aljamal B, Alqahtani M, Almulhim A, Hamid H, Hashem MO, Abdulwahab F, Abouyousef O, Jaafar A, Alshidi T, Al-Owain M, Alhashem A, Al Tala S, Khan AO, Mardawi E, Alkuraya H, Faqeih E, Afqi M, Alkhalifi S, Rahbeeni Z, Hagos ST, Al-Ahmadi W, Nadeef S, Maddirevula S, Khabar KSA, Putra A, Angelov A, Park C, Reyes-Ramos AM, Umer H, Ullah I, Driguez P, Fukasawa Y, Cheung MS, Gallouzi IE, Alkuraya FS. AlAbdi L, et al. Among authors: jaafar a. Genome Med. 2023 Dec 14;15(1):114. doi: 10.1186/s13073-023-01270-8. Genome Med. 2023. PMID: 38098057 Free PMC article.
Genetic mapping of the p47 L.3.2 mutation in Drosophilamelanogaster.
Cordes CN, Gouge MM, Morgan H, Porter C, Siders J, Bacab E, Barin B, Becerra IA, Castillo J, Church J, Condo-Hicks S, Conroy KJ, Curbelo-Navarro I, DePrest BJ, Eady A, Edmead T, Farouk V, Flores-Torres A, Girmai M, Gutierrez Navarro CI, Guzman S, Harris AB, Healy K, Jaafar A, Khadr A, Kiboi MN, Korte SN, Lopez C, Mahdi H, Mendoza Avalos J, Miranda K, Patel D, Lopez C, Mahdi H, Mendoza Avalos J, Miranda K, Patel D, Patel R, Pechulis S, Plachta V, Rhodes K, Sandoval AM, Thomas C, Valadez-Mendoza JA, Vora H, Yousif J, Bieser KL, Kagey JD. Cordes CN, et al. Among authors: jaafar a. MicroPubl Biol. 2023 Sep 18;2023:10.17912/micropub.biology.000783. doi: 10.17912/micropub.biology.000783. eCollection 2023. MicroPubl Biol. 2023. PMID: 37799208 Free PMC article.
167 results