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Results: 1-11 |
Results: 11
Clinical and genetic characterization of an autosomal dominant nephropathy
Authors: Parvari, R Shnaider, A Basok, A Katchko, L Borochovich, Z Kanis, A Landau, D
Citation: R. Parvari et al., Clinical and genetic characterization of an autosomal dominant nephropathy, AM J MED G, 99(3), 2001, pp. 204-209
Reply to the letter to the editor by Toscano and Andria - "Congenital insensitivity to pain with anhidrosis: An NGF/TrkA-related disorder"
Authors: Parvari, R Levy, J Moses, S
Citation: R. Parvari et al., Reply to the letter to the editor by Toscano and Andria - "Congenital insensitivity to pain with anhidrosis: An NGF/TrkA-related disorder", AM J MED G, 99(2), 2001, pp. 165-165
A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease
Authors: Parvari, R Brodyansky, I Elpeleg, O Moses, S Landau, D Hershkovitz, E
Citation: R. Parvari et al., A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease, AM J HU GEN, 69(4), 2001, pp. 869-875
Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD)syndrome
Authors: Hershkovitz, E Hershkovitz, R Hertzug, L Gorodischer, R Mazor, M Parvari, R
Citation: E. Hershkovitz et al., Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD)syndrome, PRENAT DIAG, 20(6), 2000, pp. 475-477
Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: Genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies
Authors: Shatzky, S Moses, S Levy, J Pinsk, V Hershkovitz, E Herzog, L Shorer, Z Luder, A Parvari, R
Citation: S. Shatzky et al., Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: Genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies, AM J MED G, 92(5), 2000, pp. 353-360
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
A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel
Authors: Miura, Y Hershkovitz, E Inagaki, A Parvari, R Oiso, Y Phillip, M
Citation: Y. Miura et al., A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel, J CLIN END, 85(10), 2000, pp. 3687-3689
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
Transcription map of Xq27: Candidates for several X-linked diseases
Authors: Zucchi, I Jones, J Affer, M Montagna, C Redolfi, E Susani, L Vezzoni, P Parvari, R Schlessinger, D Whyte, MP Mumm, S
Citation: I. Zucchi et al., Transcription map of Xq27: Candidates for several X-linked diseases, GENOMICS, 57(2), 1999, pp. 209-218
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
Glycogen storage disease type 1a in three siblings with the G270V mutation
Authors: Parvari, R Isam, J Moses, SW
Citation: R. Parvari et al., Glycogen storage disease type 1a in three siblings with the G270V mutation, J INH MET D, 22(2), 1999, pp. 149-154
Risultati: 1-11 |