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Results: 1-10 |
Results: 10
Carrier screening for gaucher disease in couples of mixed ethnicity
Authors: Wallerstein, R Starkman, A Jansen, V
Citation: R. Wallerstein et al., Carrier screening for gaucher disease in couples of mixed ethnicity, GENET TEST, 5(1), 2001, pp. 61-64
Early prenatal ultrasound diagnosis of cleidocranial dysplasia
Authors: Stewart, PA Wallerstein, R Moran, E Lee, MJ
Citation: Pa. Stewart et al., Early prenatal ultrasound diagnosis of cleidocranial dysplasia, ULTRASOUN O, 15(2), 2000, pp. 154-156
Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: A reportof two case reports with molecular correlation and clinical management
Authors: Wallerstein, R Klein, ML Genieser, N Pulkkinen, L Uitto, J
Citation: R. Wallerstein et al., Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: A reportof two case reports with molecular correlation and clinical management, PEDIAT DERM, 17(4), 2000, pp. 286-289
Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus
Authors: Jansen, V Sarafoglou, K Rebarber, A Greco, A Genieser, NB Wallerstein, R
Citation: V. Jansen et al., Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus, J ULTR MED, 19(10), 2000, pp. 719-722
Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13,18, 20 and 21: karyotype-phenotype correlations
Authors: Wallerstein, R Yu, MT Neu, RL Benn, P Bowen, CL Crandall, B Disteche, C Donahue, R Harrison, B Hershey, D Higgins, RR Jenkins, LS Jackson-Cook, C Keitges, E Khodr, G Lin, CC Luthardt, FW Meisner, L Mengden, G Patil, SR Rodriguez, M Sciorra, LJ Shaffer, LG Stetten, G Van Dyke, DL Wang, HS Williams, F Zaslav, AL Hsu, LYF
Citation: R. Wallerstein et al., Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13,18, 20 and 21: karyotype-phenotype correlations, PRENAT DIAG, 20(2), 2000, pp. 103-122
Maternal uniparental disomy of chromosome 16 and body stalk anomaly
Authors: Chan, Y Silverman, N Jackson, L Wapner, R Wallerstein, R
Citation: Y. Chan et al., Maternal uniparental disomy of chromosome 16 and body stalk anomaly, AM J MED G, 94(4), 2000, pp. 284-286
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
Authors: Petrij, F Dauwerse, HG Blough, RI Giles, RH van der Smagt, JJ Wallerstein, R Maaswinkel-Mooy, PD van Karnebeek, CD van Ommen, GJB van Haeringen, A Rubinstein, JH Saal, HM Hennekam, RCM Peters, DJM Breuning, MH
Citation: F. Petrij et al., Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations, J MED GENET, 37(3), 2000, pp. 168-176
On the expansion of the phenotype of the acro-renal-ocular syndrome - Reply to Battaglia
Authors: Wallerstein, R
Citation: R. Wallerstein, On the expansion of the phenotype of the acro-renal-ocular syndrome - Reply to Battaglia, CLIN DYSMOR, 8(4), 1999, pp. 300-300
Short rib-polydactyly syndrome: more evidence of a continuous spectrum
Authors: Sarafoglou, K Funai, EF Fefferman, N Zajac, L Geneiser, N Paidas, MJ Greco, A Wallerstein, R
Citation: K. Sarafoglou et al., Short rib-polydactyly syndrome: more evidence of a continuous spectrum, CLIN GENET, 56(2), 1999, pp. 145-148
The spectrum of mutations in TBX3: Genotype phenotype relationship in ulnar-mammary syndrome
Authors: Bamshad, M Le, T Watkins, WS Dixon, ME Kramer, BE Roeder, AD Carey, JC Root, S Schinzel, A Van Maldergem, L Gardner, RJM Lin, RC Seidman, CE Seidman, JG Wallerstein, R Moran, E Sutphen, R Campbell, CE Jorde, LB
Citation: M. Bamshad et al., The spectrum of mutations in TBX3: Genotype phenotype relationship in ulnar-mammary syndrome, AM J HU GEN, 64(6), 1999, pp. 1550-1562
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