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Mosaic ring 12p and total anomalous pulmonary venous return.
Harris DL, Siu BL, Hummel M, Harbert K, Senft J, Sargent L, Wenger SL. Harris DL, et al. Among authors: hummel m. Am J Med Genet A. 2004 Nov 15;131(1):91-3. doi: 10.1002/ajmg.a.30315. Am J Med Genet A. 2004. PMID: 15389698
Cleft palate in a newborn with duplication 2(q13q23).
Wenger SL, Bleigh OC, Hummel M. Wenger SL, et al. Among authors: hummel m. Cleft Palate Craniofac J. 2004 Sep;41(5):568-70. doi: 10.1597/03-059.1. Cleft Palate Craniofac J. 2004. PMID: 15352858
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL; Members of the Undiagnosed Diseases Network; Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR. Bostwick BL, et al. Among authors: hummel m. Genome Med. 2017 Aug 14;9(1):73. doi: 10.1186/s13073-017-0463-8. Genome Med. 2017. PMID: 28807008 Free PMC article.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J. Palmer EE, et al. Among authors: hummel m. Am J Hum Genet. 2020 Dec 3;107(6):1157-1169. doi: 10.1016/j.ajhg.2020.10.005. Epub 2020 Nov 6. Am J Hum Genet. 2020. PMID: 33159883 Free PMC article.
1,103 results