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De novo variants in ATP2B1 lead to neurodevelopmental delay.
Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Abou Jamra R, Oppermann H. Rahimi MJ, et al. Among authors: hamiel u. Am J Hum Genet. 2022 May 5;109(5):944-952. doi: 10.1016/j.ajhg.2022.03.009. Epub 2022 Mar 30. Am J Hum Genet. 2022. PMID: 35358416 Free PMC article.
Cherry-Red Spot in Tay-Sachs Disease.
Hamiel U, Hausman-Kedem M. Hamiel U, et al. N Engl J Med. 2022 Jun 30;386(26):e72. doi: 10.1056/NEJMicm2116238. N Engl J Med. 2022. PMID: 35767441 No abstract available.
Adolescent BMI and early-onset type 2 diabetes among Ethiopian immigrants and their descendants: a nationwide study.
Simchoni M, Hamiel U, Pinhas-Hamiel O, Zucker I, Cukierman-Yaffe T, Lutski M, Derazne E, Beer Z, Behar D, Keinan-Boker L, Mosenzon O, Tzur D, Afek A, Tirosh A, Raz I, Twig G. Simchoni M, et al. Among authors: hamiel u. Cardiovasc Diabetol. 2020 Oct 6;19(1):168. doi: 10.1186/s12933-020-01143-z. Cardiovasc Diabetol. 2020. PMID: 33023586 Free PMC article.
25 results