Robin NH - Search Results

1

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

2

New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma.

Robin NH, Grace K, DeSouza TG, McDonald-McGinn D, Zackai EH. Robin NH, et al. Am J Med Genet. 1993 Nov 1;47(6):852-6. doi: 10.1002/ajmg.1320470611. Am J Med Genet. 1993. PMID: 7506484

3

A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.

Feldman GJ, Robin NH, Brueton LA, Robertson E, Thompson EM, Siegel-Bartelt J, Gasser DL, Bailey LC, Zackai EH, Muenke M. Feldman GJ, et al. Among authors: robin nh. Am J Hum Genet. 1995 Apr;56(4):938-43. Am J Hum Genet. 1995. PMID: 7717404 Free PMC article.

4

Classical Noonan syndrome is not associated with deletions of 22q11.

Robin NH, Sellinger B, McDonald-McGinn D, Zackai EH, Emanuel BS, Driscoll DA. Robin NH, et al. Am J Med Genet. 1995 Mar 13;56(1):94-6. doi: 10.1002/ajmg.1320560121. Am J Med Genet. 1995. PMID: 7747795

5

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, et al. Schell U, et al. Among authors: robin nh. Hum Mol Genet. 1995 Mar;4(3):323-8. doi: 10.1093/hmg/4.3.323. Hum Mol Genet. 1995. PMID: 7795583

6

Unusual craniofacial dysmorphia due to prenatal alcohol and cocaine exposure.

Robin NH, Zackai EH. Robin NH, et al. Teratology. 1994 Aug;50(2):160-4. doi: 10.1002/tera.1420500210. Teratology. 1994. PMID: 7801303 No abstract available.

7

Non-immune hydrops fetalis associated with impaired fetal movement: a case report and review.

Robin NH, Curtis MT, Mulla W, Reynolds CA, Anday E, Rorke LB, Zackai EH. Robin NH, et al. Am J Med Genet. 1994 Nov 15;53(3):251-4. doi: 10.1002/ajmg.1320530310. Am J Med Genet. 1994. PMID: 7856661

8

De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3)(q25.1q26.1).

Robin NH, Magnusson M, McDonald-McGinn D, Zackai EH, Spinner NB. Robin NH, et al. Clin Genet. 1993 Dec;44(6):335-7. doi: 10.1111/j.1399-0004.1993.tb03911.x. Clin Genet. 1993. PMID: 8131307

9

Human malformations similar to those in the mouse mutation disorganization (Ds).

Robin NH, Adewale OO, McDonald-McGinn D, Nadeau JH, Zackai EH, Bućan M. Robin NH, et al. Hum Genet. 1993 Nov;92(5):461-4. doi: 10.1007/BF00216451. Hum Genet. 1993. PMID: 8244336

10

Frontonasal malformation and cloacal exstrophy: a previously unreported association.

Robin NH, Neidich JA, Bason LD, Whitaker LA, McDonald-McGinn D, Hunter J, Snyder HM 3rd, Zackai EH. Robin NH, et al. Am J Med Genet. 1996 Jan 2;61(1):75-8. doi: 10.1002/(SICI)1096-8628(19960102)61:1<75::AID-AJMG15>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8741924

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