Robin NH - Search Results

1

Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. Falk MJ, et al. Among authors: robin nh. Am J Med Genet A. 2004 Jul 1;128A(1):23-8. doi: 10.1002/ajmg.a.30033. Am J Med Genet A. 2004. PMID: 15211651

2

Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature.

Robin NH, Opitz JM, Muenke M. Robin NH, et al. Am J Med Genet. 1996 Mar 29;62(3):305-17. doi: 10.1002/(SICI)1096-8628(19960329)62:3<305::AID-AJMG20>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8882794 No abstract available.

3

Clinical and locus heterogeneity in brachydactyly type C.

Robin NH, Gunay-Aygun M, Polinkovsky A, Warman ML, Morrison S. Robin NH, et al. Am J Med Genet. 1997 Jan 31;68(3):369-77. doi: 10.1002/(sici)1096-8628(19970131)68:3<369::aid-ajmg23>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9024575

4

Duplication 14(q24.3q31) in a father and daughter: delineation of a possible imprinted region.

Robin NH, Harari-Shacham A, Schwartz S, Wolff DJ. Robin NH, et al. Am J Med Genet. 1997 Aug 22;71(3):361-5. doi: 10.1002/(sici)1096-8628(19970822)71:3<361::aid-ajmg20>3.0.co;2-h. Am J Med Genet. 1997. PMID: 9268110

5

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.

6

Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification.

Robin NH, Scott JA, Arnold JE, Goldstein JA, Shilling BB, Marion RW, Cohen MM Jr. Robin NH, et al. Am J Med Genet. 1998 Jan 23;75(3):240-4. Am J Med Genet. 1998. PMID: 9475589

7

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.

Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH. Sirko-Osadsa DA, et al. Among authors: robin nh. J Pediatr. 1998 Feb;132(2):368-71. doi: 10.1016/s0022-3476(98)70466-4. J Pediatr. 1998. PMID: 9506662

8

Severe oculocerebrocutaneous (Delleman) syndrome: overlap with Goldenhar anomaly.

McCandless SE, Robin NH. McCandless SE, et al. Among authors: robin nh. Am J Med Genet. 1998 Jul 7;78(3):282-5. doi: 10.1002/(sici)1096-8628(19980707)78:3<282::aid-ajmg15>3.0.co;2-b. Am J Med Genet. 1998. PMID: 9677067

9

Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements.

Kumar A, Becker LA, Depinet TW, Haren JM, Kurtz CL, Robin NH, Cassidy SB, Wolff DJ, Schwartz S. Kumar A, et al. Among authors: robin nh. Hum Genet. 1998 Aug;103(2):173-8. doi: 10.1007/pl00008706. Hum Genet. 1998. PMID: 9760201

10

Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma.

Limwongse C, Schwartz S, Bocian M, Robin NH. Limwongse C, et al. Among authors: robin nh. Am J Med Genet. 1999 Jan 1;82(1):20-4. doi: 10.1002/(sici)1096-8628(19990101)82:1<20::aid-ajmg4>3.0.co;2-5. Am J Med Genet. 1999. PMID: 9916837 Review.

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