Martin RA - Search Results

1

Development and validation of a measure of dysmorphology: useful for autism subgroup classification.

Miles JH, Takahashi TN, Hong J, Munden N, Flournoy N, Braddock SR, Martin RA, Bocian ME, Spence MA, Hillman RE, Farmer JE. Miles JH, et al. Among authors: martin ra. Am J Med Genet A. 2008 May 1;146A(9):1101-16. doi: 10.1002/ajmg.a.32244. Am J Med Genet A. 2008. PMID: 18383511

2

Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients.

Martin RA, Hunter V, Neufeld-Kaiser W, Flodman P, Spence MA, Furnas D, Martin KA. Martin RA, et al. Among authors: martin ka. Am J Med Genet. 2000 Jan 17;90(2):155-61. doi: 10.1002/(sici)1096-8628(20000117)90:2<155::aid-ajmg13>3.0.co;2-v. Am J Med Genet. 2000. PMID: 10607956

3

47,XXX associated with malformations.

Haverty CE, Lin AE, Simpson E, Spence MA, Martin RA. Haverty CE, et al. Among authors: martin ra. Am J Med Genet A. 2004 Feb 15;125A(1):108-11; author reply 112. doi: 10.1002/ajmg.a.20393. Am J Med Genet A. 2004. PMID: 14755479 Review. No abstract available.

4

LIT1 and H19 methylation defects in isolated hemihyperplasia.

Martin RA, Grange DK, Zehnbauer B, Debaun MR. Martin RA, et al. Am J Med Genet A. 2005 Apr 15;134A(2):129-31. doi: 10.1002/ajmg.a.30578. Am J Med Genet A. 2005. PMID: 15651076

5

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M. Nanni L, et al. Among authors: martin ra. Hum Mol Genet. 1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479. Hum Mol Genet. 1999. PMID: 10556296

6

Mirror hands and feet with a distinct nasal defect, an autosomal dominant condition.

Martin RA, Jones MC, Jones KL. Martin RA, et al. Am J Med Genet. 1993 Apr 15;46(2):129-31. doi: 10.1002/ajmg.1320460205. Am J Med Genet. 1993. PMID: 8387244 No abstract available.

7

Truncus arteriosus and other lethal internal anomalies in Goltz syndrome.

Han XY, Wu SS, Conway DH, Pawel BR, Punnett HH, Martin RA, de Chadarevian JP. Han XY, et al. Among authors: martin ra. Am J Med Genet. 2000 Jan 3;90(1):45-8. Am J Med Genet. 2000. PMID: 10602117

8

Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex.

Martin RA, Cunniff C, Erickson L, Jones KL. Martin RA, et al. Am J Med Genet. 1992 Apr 1;42(6):839-41. doi: 10.1002/ajmg.1320420619. Am J Med Genet. 1992. PMID: 1554024

9

A review and case report of aprosencephaly and the XK aprosencephaly syndrome.

Martin RA, Carey JG. Martin RA, et al. Am J Med Genet. 1982 Mar;11(3):369-71. doi: 10.1002/ajmg.1320110316. Am J Med Genet. 1982. PMID: 7081301 No abstract available.

10

Delineation of the Costello syndrome.

Martin RA, Jones KL. Martin RA, et al. Am J Med Genet. 1991 Dec 1;41(3):346-9. doi: 10.1002/ajmg.1320410316. Am J Med Genet. 1991. PMID: 1789291

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