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Results: 1-20 |
Results: 20
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
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
Authors: Mykytyn, K Braun, T Carmi, R Haider, NB Searby, CC Shastri, M Beck, G Wright, AF Iannaccone, A Elbedour, K Riise, R Baldi, A Raas-Rothschild, A Gorman, SW Duhl, DM Jacobson, SG Casavant, T Stone, EM Sheffield, VC
Citation: K. Mykytyn et al., Identification of the gene that, when mutated, causes the human obesity syndrome BBS4, NAT GENET, 28(2), 2001, pp. 188-191
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
Authors: Nishimura, DY Searby, CC Carmi, R Elbedour, K Van Maldergem, L Fulton, AB Lam, BL Powell, BR Swiderski, RE Bugge, KE Haider, NB Kwitek-Black, AE Ying, LH Duhl, DM Gorman, SW Heon, E Iannaccone, A Bonneau, D Biesecker, LG Jacobson, SG Stone, EM Sheffield, VC
Citation: Dy. Nishimura et al., Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2), HUM MOL GEN, 10(8), 2001, pp. 865-874
Osteopetrosis: a single centre experience of stem cell transplantation andprenatal diagnosis
Authors: Kapelushnik, J Shalev, C Yaniv, I Aker, M Carmi, R Cohen, Z Mozer, A Schulman, C Stein, G Or, R
Citation: J. Kapelushnik et al., Osteopetrosis: a single centre experience of stem cell transplantation andprenatal diagnosis, BONE MAR TR, 27(2), 2001, pp. 129-132
Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis
Authors: Shalev, H Mishori-Dery, A Kapelushnik, J Moser, A Sheffield, VC McClain, A Carmi, R
Citation: H. Shalev et al., Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis, PRENAT DIAG, 21(3), 2001, pp. 183-186
Achondroplasia in diverse Jewish and Arab populations in Israel: Clinical and molecular characterization
Authors: Falik-Zaccai, TC Shachak, E Abeliovitch, D Lerer, I Shefer, R Carmi, R Ries, L Friedman, M Shohat, M Borochowitz, Z
Citation: Tc. Falik-zaccai et al., Achondroplasia in diverse Jewish and Arab populations in Israel: Clinical and molecular characterization, ISR MED ASS, 2(8), 2000, pp. 601-604
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
Authors: Haider, NB Jacobson, SG Cideciyan, AV Swiderski, R Streb, LM Searby, C Beck, G Hockey, R Hanna, DB Gorman, S Duhl, D Carmi, R Bennett, J Weleber, RG Fishman, GA Wright, AF Stone, EM Sheffield, VC
Citation: Nb. Haider et al., Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate, NAT GENET, 24(2), 2000, pp. 127-131
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms ina novel gene, TMEM2
Authors: Scott, DA Drury, S Sundstrom, RA Bishop, J Swiderski, RE Carmi, R Ramesh, A Elbedour, K Srisailapathy, CRS Keats, BJ Sheffield, VC Smith, RJH
Citation: Da. Scott et al., Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms ina novel gene, TMEM2, GENE, 246(1-2), 2000, pp. 265-274
Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 gene
Authors: Abdul-Latif, H Leiberman, E Brown, MR Carmi, R Parks, JS
Citation: H. Abdul-latif et al., Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 gene, J PED END M, 13(1), 2000, pp. 21-28
Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency
Authors: Leiberman, E Pesler, D Parvari, R Elbedour, K Abdul-Latif, H Brown, MR Parks, JS Carmi, R
Citation: E. Leiberman et al., Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency, AM J MED G, 90(3), 2000, pp. 188-192
Observation of spontaneous flux generation in a multi-Josephson-junction loop
Authors: Carmi, R Polturak, E Koren, G
Citation: R. Carmi et al., Observation of spontaneous flux generation in a multi-Josephson-junction loop, PHYS REV L, 84(21), 2000, pp. 4966-4969
Spontaneous macroscopic magnetization at the superconducting transition temperature of YBa2Cu3O7-delta
Authors: Carmi, R Polturak, E Koren, G Auerbach, A
Citation: R. Carmi et al., Spontaneous macroscopic magnetization at the superconducting transition temperature of YBa2Cu3O7-delta, NATURE, 404(6780), 2000, pp. 853-855
Complement factor h gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome - Reply to Buddles et al.
Authors: Sheffield, VC Ying, LH Carmi, R Landau, D
Citation: Vc. Sheffield et al., Complement factor h gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome - Reply to Buddles et al., AM J HU GEN, 66(5), 2000, pp. 1722-1722
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewishpopulation (vol 12, pg 240, 1998)
Authors: Horowitz, M Pasmanik-Chor, M Borochowitz, Z Falik-Zaccai, T Heldmann, K Carmi, R Parvari, R Beit-Or, H Goldman, B Peleg, L Levy-Lahad, E Renbaum, P Legum, S Shomrat, R Yeger, H Benbenisti, D Navon, R Dror, V Shohat, M Magal, N Navot, N Eyal, N
Citation: M. Horowitz et al., Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewishpopulation (vol 12, pg 240, 1998), HUM MUTAT, 13(3), 1999, pp. 255-255
The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23
Authors: Gorman, SW Haider, NB Grieshammer, U Swiderski, RE Kim, E Welch, JW Searby, C Leng, S Carmi, R Sheffield, VC Duhl, DM
Citation: Sw. Gorman et al., The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23, GENOMICS, 59(2), 1999, pp. 150-160
Search for spontaneous nucleation of magnetic flux during rapid cooling ofYBa2Cu3O7-delta films through T-c
Authors: Carmi, R Polturak, E
Citation: R. Carmi et E. Polturak, Search for spontaneous nucleation of magnetic flux during rapid cooling ofYBa2Cu3O7-delta films through T-c, PHYS REV B, 60(10), 1999, pp. 7595-7600
Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth
Authors: Parvari, R Mumm, S Galil, A Manor, E Bar-David, Y Carmi, R
Citation: R. Parvari et al., Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth, AM J MED G, 83(4), 1999, pp. 302-307
Maternal factors associated with severity of birth defects
Authors: Sheiner, E Shoham-Vardi, I Sheiner, EK Mazor, M Katz, M Carmi, R
Citation: E. Sheiner et al., Maternal factors associated with severity of birth defects, INT J GYN O, 64(3), 1999, pp. 227-232
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome
Authors: Ying, LH Katz, Y Schlesinger, M Carmi, R Shalev, H Haider, N Beck, G Sheffield, VC Landau, D
Citation: Lh. Ying et al., Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome, AM J HU GEN, 65(6), 1999, pp. 1538-1546
Lowering the burden of hereditary diseases in a traditional, inbred community: Ethical aspects of genetic research and its application
Authors: Carmi, R Elbedour, K Wietzman, D Sheffield, V Shoham-Vardi, I
Citation: R. Carmi et al., Lowering the burden of hereditary diseases in a traditional, inbred community: Ethical aspects of genetic research and its application, SCI CONTEXT, 11(3-4), 1998, pp. 391-396
Risultati: 1-20 |