Robin NH - Search Results

1

Near complete deletion of KMT2D in a college student.

Gooch C, Souder JP, Tedder ML, Kerkhof J, Lee JA, Louie RJ, Sadikovic B, Fletcher RS, Robin NH. Gooch C, et al. Among authors: robin nh. Am J Med Genet A. 2022 May;188(5):1550-1555. doi: 10.1002/ajmg.a.62652. Epub 2022 Jan 18. Am J Med Genet A. 2022. PMID: 35040536 Free PMC article.

2

Disorganization in mice and humans and its relation to sporadic birth defects.

Robin NH, Abbadi N, McCandless SE, Nadeau JH. Robin NH, et al. Am J Med Genet. 1997 Dec 31;73(4):425-36. doi: 10.1002/(sici)1096-8628(19971231)73:4<425::aid-ajmg11>3.0.co;2-t. Am J Med Genet. 1997. PMID: 9415470 Review.

3

Distal 5q deletion syndrome: phenotypic correlations.

Schafer IA, Robin NH, Posch JJ, Clark BA, Izumo S, Schwartz S. Schafer IA, et al. Among authors: robin nh. Am J Med Genet. 2001 Sep 15;103(1):63-8. doi: 10.1002/ajmg.1513. Am J Med Genet. 2001. PMID: 11562936 Review.

4

Clefting, amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence.

Robin NH, Franklin J, Prucka S, Ryan AB, Grant JH. Robin NH, et al. Am J Med Genet A. 2005 Sep 1;137A(3):298-301. doi: 10.1002/ajmg.a.30885. Am J Med Genet A. 2005. PMID: 16088913 Review.

5

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. Robin NH, et al. Am J Med Genet A. 2006 Nov 15;140(22):2416-25. doi: 10.1002/ajmg.a.31443. Am J Med Genet A. 2006. PMID: 17036343

6

Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.

Weaver KN, Rutledge KD, Grant JH, Robin NH. Weaver KN, et al. Among authors: robin nh. Am J Med Genet A. 2010 Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207. Am J Med Genet A. 2010. PMID: 20101698

7

Further delineation of the Kapur-Toriello syndrome.

Robin NH, Rutledge KD, Ray PD, Grant JH. Robin NH, et al. Am J Med Genet A. 2010 Apr;152A(4):1013-5. doi: 10.1002/ajmg.a.33349. Am J Med Genet A. 2010. PMID: 20358618

8

IRF6 mutations in mixed isolated familial clefting.

Rutledge KD, Barger C, Grant JH, Robin NH. Rutledge KD, et al. Among authors: robin nh. Am J Med Genet A. 2010 Dec;152A(12):3107-9. doi: 10.1002/ajmg.a.33053. Am J Med Genet A. 2010. PMID: 21082654

9

Genetic drift. The mall test (or fun with a dysmorphologist).

Robin NH. Robin NH. Am J Med Genet A. 2011 Dec;155A(12):2909. doi: 10.1002/ajmg.a.34303. Epub 2011 Nov 7. Am J Med Genet A. 2011. PMID: 22065570 No abstract available.

10

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.

Mikhail FM, Burnside RD, Rush B, Ibrahim J, Godshalk R, Rutledge SL, Robin NH, Descartes MD, Carroll AJ. Mikhail FM, et al. Among authors: robin nh. Genet Med. 2014 Jan;16(1):92-100. doi: 10.1038/gim.2013.79. Epub 2013 Jun 13. Genet Med. 2014. PMID: 23765049 Free article.

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