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Results: 1-11 |
Results: 11
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
Authors: Rosenberg, MJ Killoran, C Dziadzio, L Chang, S Stone, DL Meck, J Aughton, D Bird, LM Bodurtha, J Cassidy, SB Graham, JM Grix, A Guttmacher, AE Hudgins, L Kozma, C Michaelis, RC Pauli, R Peters, KF Rosenbaum, KN Tifft, CJ Wargowski, D Williams, MS Biesecker, LG
Citation: Mj. Rosenberg et al., Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations, HUM GENET, 109(3), 2001, pp. 311-318
Congenital hypomyelination neuropathy in a newborn infant: Unusual cause of diaphragmatic and vocal cord paralyses
Authors: Hahn, JS Henry, M Hudgins, L Madan, A
Citation: Js. Hahn et al., Congenital hypomyelination neuropathy in a newborn infant: Unusual cause of diaphragmatic and vocal cord paralyses, PEDIATRICS, 108(5), 2001, pp. NIL_108-NIL_111
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome
Authors: Parisi, MA Dinulos, MB Leppig, KA Sybert, VP Eng, C Hudgins, L
Citation: Ma. Parisi et al., The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome, J MED GENET, 38(1), 2001, pp. 52-58
The pediatric intern retreat: 20-year evolution of a continuing investment
Authors: Klein, EJ Marcuse, EK Jackson, JC Watkins, S Hudgins, L
Citation: Ej. Klein et al., The pediatric intern retreat: 20-year evolution of a continuing investment, ACAD MED, 75(8), 2000, pp. 853-857
Transmission of the dysgnathia complex from mother to daughter
Authors: Erlich, MS Cunningham, ML Hudgins, L
Citation: Ms. Erlich et al., Transmission of the dysgnathia complex from mother to daughter, AM J MED G, 95(3), 2000, pp. 269-274
Detection of chromosomal aberrations by a whole-genome microsatellite screen
Authors: Rosenberg, MJ Vaske, D Killoran, CE Ning, Y Wargowski, D Hudgins, L Tifft, CJ Meck, J Blancato, JK Rosenbaum, K Pauli, RM Weber, J Biesecker, LG
Citation: Mj. Rosenberg et al., Detection of chromosomal aberrations by a whole-genome microsatellite screen, AM J HU GEN, 66(2), 2000, pp. 419-427
Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: The need for practice guidelines
Authors: Bennett, RL Hudgins, L Smith, CO Motulsky, AG
Citation: Rl. Bennett et al., Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: The need for practice guidelines, GENET MED, 1(6), 1999, pp. 286-292
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Authors: Gong, YQ Krakow, D Marcelino, J Wilkin, D Chitayat, D Babul-Hirji, R Hudgins, L Cremers, CW Cremers, FPM Brunner, HG Reinker, K Rimoin, DL Cohn, DH Goodman, FR Reardon, W Patton, M Francomano, CA Warman, ML
Citation: Yq. Gong et al., Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis, NAT GENET, 21(3), 1999, pp. 302-304
Expansile bone lesions in a three-generation family
Authors: Dinulos, MB Sternen, DL Graham, CB Hudgins, L
Citation: Mb. Dinulos et al., Expansile bone lesions in a three-generation family, AM J MED G, 82(1), 1999, pp. 1-5
Phenotypic spectrum and management issues in Kabuki syndrome
Authors: Kawame, H Hannibal, MC Hudgins, L Pagon, RA
Citation: H. Kawame et al., Phenotypic spectrum and management issues in Kabuki syndrome, J PEDIAT, 134(4), 1999, pp. 480-485
Phenotypic differences in African Americans with Prader-Willi Syndrome
Authors: Hudgins, L Geer, JS Cassidy, SB
Citation: L. Hudgins et al., Phenotypic differences in African Americans with Prader-Willi Syndrome, GENET MED, 1(1), 1998, pp. 49-51
Risultati: 1-11 |