Robin NH - Search Results

1

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Zarate YA, et al. Among authors: robin nh. Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13. Am J Med Genet A. 2018. PMID: 29436146

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

Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity.

Robin NH, Feldman GJ, Mitchell HF, Lorenz P, Wilroy RS, Zackai EH, Allanson JE, Reich EW, Pfeiffer RA, Clarke LA, et al. Robin NH, et al. Hum Mol Genet. 1994 Dec;3(12):2153-8. doi: 10.1093/hmg/3.12.2153. Hum Mol Genet. 1994. PMID: 7881412

9

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

10

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

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