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Page 1
Genetic Analysis of Heterotaxy in a Consanguineous Cohort.
Al-Korashy M, Binomar H, Al-Mostafa A, Al-Mogarri I, Al-Oufi S, Al-Admawi M, Al-Jufan M, Echahidi N, Mokeem A, Alfares A, Ramzan K, Tulbah S, Al-Qahtani A, Takroni S, Maddirevula S, Al-Hassnan Z. Al-Korashy M, et al. Among authors: al hassnan z. Clin Genet. 2024 Nov 8. doi: 10.1111/cge.14641. Online ahead of print. Clin Genet. 2024. PMID: 39513328
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.
Kishnani PS, Kronn D, Suwazono S, Broomfield A, Llerena J, Al-Hassnan ZN, Batista JL, Wilson KM, Periquet M, Daba N, Hahn A, Chien YH. Kishnani PS, et al. Among authors: al hassnan zn. Orphanet J Rare Dis. 2023 Dec 6;18(1):381. doi: 10.1186/s13023-023-02981-2. Orphanet J Rare Dis. 2023. PMID: 38057861 Free PMC article.
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Accogli A, Zaki MS, Al-Owain M, Otaif MY, Jackson A, Argilli E, Chandler KE, De Goede CGEL, Cora T, Alvi JR, Eslahi A, Asl Mohajeri MS, Ashtiani S, Au PYB, Scocchia A, Alakurtti K, Pagnamenta AT, Toosi MB, Karimiani EG, Mojarrad M, Arab F, Duymuş F, Scantlebury MH, Yeşil G, Rosenfeld JA, Türkyılmaz A, Sağer SG, Sultan T, Ashrafzadeh F, Zahra T, Rahman F, Maqbool S, Abdel-Hamid MS, Issa MY, Efthymiou S, Bauer P, Zifarelli G, Salpietro V, Al-Hassnan Z, Banka S, Sherr EH, Gleeson JG, Striano P, Houlden H, Severino M, Maroofian R. Accogli A, et al. Among authors: al hassnan z. Brain Commun. 2023 Aug 17;5(5):fcad222. doi: 10.1093/braincomms/fcad222. eCollection 2023. Brain Commun. 2023. PMID: 37794925 Free PMC article.
Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization.
Ruijmbeek CW, Housley F, Idrees H, Housley MP, Pestel J, Keller L, Lai JK, der Linde HCV, Willemsen R, Piesker J, Al-Hassnan ZN, Almesned A, Dalinghaus M, den Bersselaar LMV, van Slegtenhorst MA, Tessadori F, Bakkers J, van Ham TJ, Stainier DY, Verhagen JM, Reischauer S. Ruijmbeek CW, et al. Among authors: al hassnan zn. JCI Insight. 2023 Sep 8;8(17):e168247. doi: 10.1172/jci.insight.168247. JCI Insight. 2023. PMID: 37561591 Free PMC article.
101 results