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A piece of my mind. What is natural?
Mendelsohn BA. Mendelsohn BA. JAMA. 2013 May 1;309(17):1783-4. doi: 10.1001/jama.2012.205105. JAMA. 2013. PMID: 23632721 No abstract available.
The role of mitochondrially derived ATP in synaptic vesicle recycling.
Pathak D, Shields LY, Mendelsohn BA, Haddad D, Lin W, Gerencser AA, Kim H, Brand MD, Edwards RH, Nakamura K. Pathak D, et al. Among authors: mendelsohn ba. J Biol Chem. 2015 Sep 11;290(37):22325-36. doi: 10.1074/jbc.M115.656405. Epub 2015 Jun 30. J Biol Chem. 2015. PMID: 26126824 Free PMC article.
Dental findings in 14q terminal deletion syndrome.
Mendelsohn BA, Jeng LLB, Oberoi S, Klein OD. Mendelsohn BA, et al. Clin Dysmorphol. 2014 Apr;23(2):60-62. doi: 10.1097/MCD.0000000000000026. Clin Dysmorphol. 2014. PMID: 24535103 No abstract available.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM. Frints SGM, et al. Among authors: mendelsohn ba. Hum Mutat. 2019 Dec;40(12):2270-2285. doi: 10.1002/humu.23841. Epub 2019 Aug 21. Hum Mutat. 2019. PMID: 31206972 Free PMC article.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, Réda M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR 2nd, Svihovec S, Brown K, Koopman-Keemink Y, Hoffer MJV, Lakeman IMM, Brischoux-Boucher E, Kinali M, Zhao X, Lalani SR, Scott DA. Sewani S, et al. Among authors: mendelsohn ba. Am J Med Genet A. 2024 Mar;194(3):e63445. doi: 10.1002/ajmg.a.63445. Epub 2023 Oct 23. Am J Med Genet A. 2024. PMID: 37872713
76 results