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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Among authors: kaplan p. Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683120 Free PMC article.
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. Marshall CR, et al. Among authors: kaplan p. Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18565486 Free PMC article.
A randomized trial of a wearable UV dosimeter for skin cancer prevention.
Dumont ELP, Kaplan PD, Do C, Banerjee S, Barrer M, Ezzedine K, Zippin JH, Varghese GI. Dumont ELP, et al. Among authors: kaplan pd. Front Med (Lausanne). 2024 Mar 1;11:1259050. doi: 10.3389/fmed.2024.1259050. eCollection 2024. Front Med (Lausanne). 2024. PMID: 38495115 Free PMC article.
Blood and Brain Metabolites after Cerebral Ischemia.
Baranovicova E, Kalenska D, Kaplan P, Kovalska M, Tatarkova Z, Lehotsky J. Baranovicova E, et al. Among authors: kaplan p. Int J Mol Sci. 2023 Dec 9;24(24):17302. doi: 10.3390/ijms242417302. Int J Mol Sci. 2023. PMID: 38139131 Free PMC article. Review.
1,061 results