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CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. Baldridge D, et al. Among authors: michelson m. Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799. Hum Mutat. 2008. PMID: 18566967 Free PMC article.
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.
Pavlova EV, Lev D, Michelson M, Yosovich K, Michaeli HG, Bright NA, Manna PT, Dickson VK, Tylee KL, Church HJ, Luzio JP, Cox TM. Pavlova EV, et al. Among authors: michelson m. Hum Mutat. 2022 Dec;43(12):2265-2278. doi: 10.1002/humu.24479. Epub 2022 Oct 8. Hum Mutat. 2022. PMID: 36153662 Free PMC article.
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.
Gafner M, Michelson M, Argilli E, Yosovich K, Sherr EH, Parks KC, England EM, Hady-Cohen R, Leibovitz Z, Lev D, Michaeli-Yosef Y, Lerman-Sagie T, Blumkin L. Gafner M, et al. Among authors: michelson m. J Hum Genet. 2022 Feb;67(2):95-101. doi: 10.1038/s10038-021-00971-5. Epub 2021 Aug 16. J Hum Genet. 2022. PMID: 34400773 Free PMC article.
91 results