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Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.
Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Moccia A, et al. Among authors: martin dm. Genet Med. 2018 Sep;20(9):1022-1029. doi: 10.1038/gim.2017.233. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300383 Free PMC article.
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM. Ziats MN, et al. Among authors: martin dm. Pediatr Res. 2020 Mar;87(4):735-739. doi: 10.1038/s41390-019-0611-5. Epub 2019 Oct 16. Pediatr Res. 2020. PMID: 31618753 Free PMC article.
Systemic lupus erythematosus in a man with Noonan syndrome.
Martin DM, Gencyuz CF, Petty EM. Martin DM, et al. Am J Med Genet. 2001 Jul 22;102(1):59-62. doi: 10.1002/1096-8628(20010722)102:1<59::aid-ajmg1351>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11471173 Free article.
Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.
Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ, Martin DM. Bedoyan JK, et al. Among authors: martin dm. J Med Genet. 2012 May;49(5):332-40. doi: 10.1136/jmedgenet-2011-100575. J Med Genet. 2012. PMID: 22581972 Free PMC article.
372 results