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Pubmed for Handhelds
PUBMED FOR HANDHELDS
Journal Abstract Search
146 related items for PubMed ID: 23307567
1. A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21. Barboza-Cerda MC, Campos-Acevedo LD, Rangel R, Martínez-de-Villarreal LE, Déctor MA. Am J Med Genet A; 2013 Feb; 161A(2):237-43. PubMed ID: 23307567 [Abstract] [Full Text] [Related]
5. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW. Am J Hum Genet; 1997 Dec; 61(6):1405-12. PubMed ID: 9399901 [Abstract] [Full Text] [Related]
7. Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. Piluso G, Carella M, D'Avanzo M, Santinelli R, Carrano EM, D'Avanzo A, D'Adamo AP, Gasparini P, Nigro V. Hum Genet; 2003 Feb; 112(2):124-30. PubMed ID: 12522552 [Abstract] [Full Text] [Related]
12. Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. Amor DJ, Dahl HH, Bahlo M, Bankier A. Am J Med Genet A; 2007 Oct 01; 143A(19):2236-41. PubMed ID: 17726694 [Abstract] [Full Text] [Related]
14. Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers. Martínez F, Tomás M, Millán JM, Fernández A, Palau F, Prieto F. J Med Genet; 1998 Apr 01; 35(4):284-7. PubMed ID: 9598720 [Abstract] [Full Text] [Related]
17. X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype. Verhoeven WM, Egger JI, Hoogeboom AJ. Genet Couns; 2012 Apr 01; 23(2):157-67. PubMed ID: 22876573 [Abstract] [Full Text] [Related]
18. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA. Neurology; 2003 May 27; 60(10):1664-7. PubMed ID: 12771259 [Abstract] [Full Text] [Related]
19. Intellectual disability, unusual facial morphology and hand anomalies in sibs. Sousa SB, Venâncio M, Chanudet E, Palmer R, Ramos L, Beales PL, Moore GE, Saraiva JM, Hennekam RC. Am J Med Genet A; 2013 Oct 27; 161A(10):2401-6. PubMed ID: 23949889 [Abstract] [Full Text] [Related]