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Results:
1-15
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Results: 15
Authors:
Pras, E
Pras, E
Bakhan, T
Levy-Nissenbaum, E
Lahat, H
Assia, EI
Garzozi, HJ
Kastner, DL
Goldman, B
Frydman, M
Citation: E. Pras et al., A gene causing autosomal recessive cataract maps to the short arm of chromosome 3, ISR MED ASS, 3(8), 2001, pp. 559-562
Authors:
Achiron, R
Frydman, M
Lipitz, S
Zalel, Y
Citation: R. Achiron et al., Urorectal septum malformation sequence: prenatal sonographic diagnosis in two sets of discordant twins, ULTRASOUN O, 16(6), 2000, pp. 571-574
Authors:
Frydman, M
Vreugde, S
Nageris, BI
Weiss, S
Vahava, O
Avraham, KB
Citation: M. Frydman et al., Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor, ARCH OTOLAR, 126(5), 2000, pp. 633-637
Authors:
Sobe, T
Vreugde, S
Shahin, H
Berlin, M
Davis, N
Kanaan, M
Yaron, Y
Orr-Urtreger, A
Frydman, M
Shohat, M
Avraham, KB
Citation: T. Sobe et al., The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population, HUM GENET, 106(1), 2000, pp. 50-57
Authors:
Pesso, R
Berkenstadt, H
Cuckle, H
Gak, E
Peleg, L
Frydman, M
Barkai, G
Citation: R. Pesso et al., Screening for fragile X syndrome in women of reproductive age, PRENAT DIAG, 20(8), 2000, pp. 611-614
Authors:
Ries, L
Frydman, M
Barkai, G
Goldman, B
Friedman, E
Citation: L. Ries et al., Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy, PRENAT DIAG, 20(11), 2000, pp. 876-880
Authors:
Achiron, R
Heggesh, J
Grisaru, D
Goldman, B
Lipitz, S
Yagel, S
Frydman, M
Citation: R. Achiron et al., Noonan syndrome: A cryptic condition in early gestation, AM J MED G, 92(3), 2000, pp. 159-165
Authors:
Aviram-Goldring, A
Fritz, B
Bartsch, C
Steuber, E
Daniely, M
Lev, D
Chaki, R
Barkai, G
Frydman, M
Rehder, H
Citation: A. Aviram-goldring et al., Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue, AM J MED G, 91(1), 2000, pp. 74-82
Authors:
Aviram-Goldring, A
Daniely, M
Frydman, M
Shneyour, Y
Cohen, H
Barkai, G
Citation: A. Aviram-goldring et al., Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24), AM J MED G, 90(2), 2000, pp. 120-122
Authors:
Pras, E
Frydman, M
Levy-Nissenbaum, E
Bakhan, T
Raz, J
Assia, EI
Goldman, B
Pras, E
Citation: E. Pras et al., A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family, INV OPHTH V, 41(11), 2000, pp. 3511-3515
Authors:
Celli, J
van Beusekom, E
Hennekam, RCM
Gallardo, ME
Smeets, DFCM
de Cordoba, SR
Innis, JW
Frydman, M
Konig, R
Kingston, H
Tolmie, J
Govaerts, LCP
van Bokhoven, H
Brunner, HG
Citation: J. Celli et al., Familial syndromic esophageal atresia maps to 2p23-p24, AM J HU GEN, 66(2), 2000, pp. 436-444
Authors:
Gothelf, D
Frisch, A
Munitz, H
Rockah, R
Laufer, N
Mozes, T
Hermesh, H
Weizman, A
Frydman, M
Citation: D. Gothelf et al., Clinical characteristics of schizophrenia associated with velo-cardio-facial syndrome, SCHIZOPHR R, 35(2), 1999, pp. 105-112
Authors:
McIntosh, I
Clough, MV
Gak, E
Frydman, M
Citation: I. Mcintosh et al., Prenatal diagnosis of nail-patella syndrome, PRENAT DIAG, 19(3), 1999, pp. 287-288
Authors:
Kauschansky, A
Frydman, M
Assa, S
Kwon, OJ
Israel, S
Lazard, D
Sprecher, E
Bloch, K
Brautbar, C
Vardi, P
Citation: A. Kauschansky et al., D-penicillamine-induced pancreatic islet autoantibody production is independent of the immunogenetic background: A lesson from patients with Wilson'sdisease, CLIN IMM IM, 89(3), 1998, pp. 279-283
Authors:
McIntosh, I
Dreyer, SD
Clough, MV
Dunston, JA
Eyaid, W
Roig, CM
Montgomery, T
Ala-Mello, S
Kaitila, I
Winterpacht, A
Zabel, B
Frydman, M
Cole, WG
Francomano, CA
Lee, B
Citation: I. Mcintosh et al., Mutation analysis of LMX1B gene in nail-patella syndrome patients, AM J HU GEN, 63(6), 1998, pp. 1651-1658
Risultati:
1-15
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