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Results:
1-18
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Results: 18
Authors:
Robin, NH
Biesecker, LG
Citation: Nh. Robin et Lg. Biesecker, Considerations for a multiaxis nomenclature system for medical genetics, GENET MED, 3(4), 2001, pp. 290-293
Authors:
Young, JL
O'Riordan, M
Goldstein, JA
Robin, NH
Citation: Jl. Young et al., What information do parents of newborns with cleft lip, palate, or both want to know?, CLEF PAL-CR, 38(1), 2001, pp. 55-58
Authors:
Robin, NH
Dietz, C
Arnold, JE
Smith, RJH
Citation: Nh. Robin et al., Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness, ARCH OTOLAR, 127(8), 2001, pp. 937-940
Authors:
Schafer, IA
Robin, NH
Posch, JJ
Clark, BA
Izumo, S
Schwartz, S
Citation: Ia. Schafer et al., Distal 5q deletion syndrome: Phenotypic correlations, AM J MED G, 103(1), 2001, pp. 63-68
Authors:
Robin, NH
Nadeau, JH
Citation: Nh. Robin et Jh. Nadeau, Disorganization in mice and humans, AM J MED G, 101(4), 2001, pp. 334-338
Authors:
Brunger, JW
Matthews, AL
Smith, RHJ
Robin, NH
Citation: Jw. Brunger et al., Genetic testing and genetic counseling for deafness: The future is here, LARYNGOSCOP, 111(4), 2001, pp. 715-718
Authors:
McCandless, SE
Schwartz, S
Morrison, S
Garlapati, K
Robin, NH
Citation: Se. Mccandless et al., Adult with an interstitial deletion of chromosome 10 [del(10)(q25.1q25.3)]: Overlap with Coffin-Lowry syndrome, AM J MED G, 95(2), 2000, pp. 93-98
Authors:
Facher, JJ
Robin, NH
Citation: Jj. Facher et Nh. Robin, Genetic counseling in primary care - What questions are patients likely toask, and how should they be answered?, POSTGR MED, 107(3), 2000, pp. 59
Authors:
Everman, DB
Shuman, C
Dzolganovski, B
O'Riordan, MA
Weksberg, R
Robin, NH
Citation: Db. Everman et al., Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome, J PEDIAT, 137(1), 2000, pp. 123-127
Authors:
Azar, T
Arnold, JE
Scott, JA
Robin, NH
Citation: T. Azar et al., Epiglottic hypoplasia associated with lacrimo-auriculo-dental-digital syndrome, ANN OTOL RH, 109(8), 2000, pp. 779-781
Authors:
Brunger, JW
Murray, GS
O'Riordan, M
Matthews, AL
Smith, RJH
Robin, NH
Citation: Jw. Brunger et al., Parental attitudes toward genetic testing for pediatric deafness, AM J HU GEN, 67(6), 2000, pp. 1621-1625
Authors:
Sirko-Osadsa, DA
Cassidy, SB
Depinet, TW
Robin, NH
Limwongse, C
Schwartz, S
Citation: Da. Sirko-osadsa et al., Molecular refinement of karyotype: Beyond the cytogenetic band, GENET MED, 1(6), 1999, pp. 254-261
Authors:
Nanni, L
Ming, JE
Bocian, M
Steinhaus, K
Bianchi, DW
de Die-Smulders, C
Giannotti, A
Imaizumi, K
Jones, KL
Del Campo, M
Martin, RA
Meinecke, P
Pierpont, MEM
Robin, NH
Young, ID
Roessler, E
Muenke, M
Citation: L. Nanni et al., The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly, HUM MOL GEN, 8(13), 1999, pp. 2479-2488
Authors:
Kraynack, NC
Hostoffer, RW
Robin, NH
Citation: Nc. Kraynack et al., Agenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: A case report and review of the literature, J CHILD NEU, 14(11), 1999, pp. 754-756
Authors:
Limwongse, C
Wyszynski, RE
Dickerman, LH
Robin, NH
Citation: C. Limwongse et al., Microcephaly-lymphedema-chorioretinal dysplasia: A unique genetic syndromewith variable expression and possible characteristic facial appearance, AM J MED G, 86(3), 1999, pp. 215-218
Authors:
Robin, NH
Hurvitz, J
Warman, ML
Morrison, S
Citation: Nh. Robin et al., Clinical and molecular studies of brachydactyly type D, AM J MED G, 85(4), 1999, pp. 413-418
Authors:
Limwongse, C
Schwartz, S
Bocian, M
Robin, NH
Citation: C. Limwongse et al., Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma, AM J MED G, 82(1), 1999, pp. 20-24
Authors:
Robin, NH
Citation: Nh. Robin, Molecular genetic advances in understanding craniosynostosis, PLAS R SURG, 103(3), 1999, pp. 1060-1070
Risultati:
1-18
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