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Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Domené S, Roessler E, El-Jaick KB, Snir M, Brown JL, Vélez JI, Bale S, Lacbawan F, Muenke M, Feldman B. Domené S, et al. Among authors: snir m. Hum Mol Genet. 2008 Dec 15;17(24):3919-28. doi: 10.1093/hmg/ddn294. Epub 2008 Sep 12. Hum Mol Genet. 2008. PMID: 18791198 Free PMC article.
Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits.
Nazareth S, Hayward L, Simmons E, Snir M, Hatchell KE, Rojahn S, Slotnick RN, Nussbaum RL. Nazareth S, et al. Among authors: snir m. Obstet Gynecol. 2021 Dec 1;138(6):860-870. doi: 10.1097/AOG.0000000000004596. Obstet Gynecol. 2021. PMID: 34735417 Free PMC article.
Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia.
Campbell-Salome G, Jones LK, Masnick MF, Walton NA, Ahmed CD, Buchanan AH, Brangan A, Esplin ED, Kann DG, Ladd IG, Kelly MA, Kindt I, Kirchner HL, McGowan MP, McMinn MN, Morales A, Myers KD, Oetjens MT, Rahm AK, Schmidlen TJ, Sheldon A, Simmons E, Snir M, Strande NT, Walters NL, Wilemon K, Williams MS, Gidding SS, Sturm AC. Campbell-Salome G, et al. Among authors: snir m. Circ Genom Precis Med. 2021 Feb;14(1):e003120. doi: 10.1161/CIRCGEN.120.003120. Epub 2021 Jan 22. Circ Genom Precis Med. 2021. PMID: 33480803 Free PMC article.
91 results