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Page 1
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
Sanchez Russo R, Gambello MJ, Murphy MM, Aberizk K, Black E, Burrell TL, Carlock G, Cubells JF, Epstein MT, Espana R, Goines K, Guest RM, Klaiman C, Koh S, Leslie EJ, Li L, Novacek DM, Saulnier CA, Sefik E, Shultz S, Walker E, White SP; Emory 3q29 Project; Mulle JG. Sanchez Russo R, et al. Among authors: epstein mt. Genet Med. 2021 May;23(5):872-880. doi: 10.1038/s41436-020-01053-1. Epub 2021 Feb 9. Genet Med. 2021. PMID: 33564151 Free PMC article.
AsktheGeneticist: five years of online experience.
Tesla C, Korf BR, Holt L, Prucka S, Robin NH, Descartes M, Lose E, Stembridge A, Epstein M, Warren S. Tesla C, et al. Genet Med. 2009 Apr;11(4):294-304. doi: 10.1097/GIM.0b013e31819b2441. Genet Med. 2009. PMID: 19282773 Free article.
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium. Demaerel W, et al. Am J Hum Genet. 2017 Oct 5;101(4):616-622. doi: 10.1016/j.ajhg.2017.09.002. Epub 2017 Sep 28. Am J Hum Genet. 2017. Retraction in: Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011 PMID: 28965848 Free PMC article. Retracted.
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium. Demaerel W, et al. Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011. Am J Hum Genet. 2018. PMID: 30193139 Free PMC article. No abstract available.
Insulinoma complicating tuberous sclerosis.
Davoren PM, Epstein MT. Davoren PM, et al. Among authors: epstein mt. J Neurol Neurosurg Psychiatry. 1992 Dec;55(12):1209. doi: 10.1136/jnnp.55.12.1209. J Neurol Neurosurg Psychiatry. 1992. PMID: 1479404 Free PMC article. No abstract available.
21 results