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Results: 1-11 |
Results: 11
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C
Authors: Meiner, V Shpitzen, S Mandel, H Klar, A Ben-Neriah, Z Zlotogora, J Sagi, M Lossos, A Bargal, R Sury, V Carmi, R Leitersdorf, E Zeigler, M
Citation: V. Meiner et al., Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C, GENET MED, 3(5), 2001, pp. 343-348
Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for highrates of pregnancy termination
Authors: Sagi, M Meiner, V Reshef, N Dagan, J Zlotogora, J
Citation: M. Sagi et al., Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for highrates of pregnancy termination, PRENAT DIAG, 21(6), 2001, pp. 461-465
Screening for genetic disorders among Jews: How should the Tay-Sachs screening program be continued?
Authors: Zlotogora, J Leventhal, A
Citation: J. Zlotogora et A. Leventhal, Screening for genetic disorders among Jews: How should the Tay-Sachs screening program be continued?, ISR MED ASS, 2(9), 2000, pp. 665-667
Molecular basis of mendelian disorders among Jews
Authors: Zlotogora, J Bach, G Munnich, A
Citation: J. Zlotogora et al., Molecular basis of mendelian disorders among Jews, MOL GEN MET, 69(3), 2000, pp. 169-180
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
Authors: Suzuki, K Hu, D Bustos, T Zlotogora, J Richieri-Costa, A Helms, JA Spritz, RA
Citation: K. Suzuki et al., Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia, NAT GENET, 25(4), 2000, pp. 427-430
Genetic disorders among Palestinian Arabs: 3. Autosomal recessive disorders in a single village
Authors: Zlotogora, J Shalev, S Habiballah, H Barjes, S
Citation: J. Zlotogora et al., Genetic disorders among Palestinian Arabs: 3. Autosomal recessive disorders in a single village, AM J MED G, 92(5), 2000, pp. 343-345
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy
Authors: Hermann, S Schestag, F Polten, A Kafert, S Penzien, J Zlotogora, J Baumann, N Gieselmann, V
Citation: S. Hermann et al., Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy, AM J MED G, 91(1), 2000, pp. 68-73
Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder
Authors: Zlotogora, J
Citation: J. Zlotogora, Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder, AM J MED G, 85(2), 1999, pp. 194-194
Deafness and mutations in the connexin 26 gene
Authors: Zlotogora, J
Citation: J. Zlotogora, Deafness and mutations in the connexin 26 gene, N ENG J MED, 340(16), 1999, pp. 1288-1288
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
Authors: Annunen, S Korkko, J Czarny, M Warman, ML Brunner, HG Kaariainen, H Mulliken, JB Tranebjaerg, L Brooks, DG Cox, GF Cruysberg, JR Curtis, MA Davenport, SLH Friedrich, CA Kaitila, I Krawczynski, MR Latos-Bielenska, A Mukai, S Olsen, BR Shinno, N Somer, M Vikkula, M Zlotogora, J Prockop, DJ Ala-Kokko, L
Citation: S. Annunen et al., Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes, AM J HU GEN, 65(4), 1999, pp. 974-983
Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13
Authors: Baala, L Rabia, SH Zlotogora, J Kabbaj, K Chhoul, H Munnich, A Lyonnet, S Sefiani, A
Citation: L. Baala et al., Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13, AM J HU GEN, 64(2), 1999, pp. 651-653
Risultati: 1-11 |