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Results: 1-11 |
Results: 11
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA (vol 29, pg 337, 2001)
Authors: Mandel, H Szargel, R Labay, V Elpeleg, O Saada, A Shalata, A Anbinder, Y Berkowitz, D Hartman, C Barak, M Eriksson, S Cohen, N
Citation: H. Mandel et al., The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA (vol 29, pg 337, 2001), NAT GENET, 29(4), 2001, pp. 491-491
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
Authors: Mandel, H Szargel, R Labay, V Elpeleg, O Saada, A Shalata, A Anbinder, Y Berkowitz, D Hartman, C Barak, M Eriksson, S Cohen, N
Citation: H. Mandel et al., The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA, NAT GENET, 29(3), 2001, pp. 337-341
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin
Authors: Sprecher, E Bergman, R Richard, G Lurie, R Shalev, S Petronius, D Shalata, A Anbinder, Y Leibu, R Perlman, I Cohen, N Szargel, R
Citation: E. Sprecher et al., Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin, NAT GENET, 29(2), 2001, pp. 134-136
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families
Authors: Raz, T Labay, V Baron, D Szargel, R Anbinder, Y Barrett, T Rabl, W Viana, MB Mandel, H Baruchel, A Cayuela, JM Cohen, N
Citation: T. Raz et al., The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families, HUM MUTAT, 16(1), 2000, pp. 37-42
Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
Authors: Sprecher, E Shalata, A Dabhah, K Futerman, B Lin, S Szargel, R Bergman, R Friedman-Birnbaum, R Cohen, N
Citation: E. Sprecher et al., Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene, J AM ACAD D, 42(6), 2000, pp. 978-982
Settling the score on hairless - Reply
Authors: Sprecher, E Lestringant, GG Szargel, R Bergman, R Labay, V Frossard, PM Friedman-Birnbaum, R Cohen, N
Citation: E. Sprecher et al., Settling the score on hairless - Reply, J INVES DER, 115(4), 2000, pp. 762-763
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness
Authors: Labay, V Raz, T Baron, D Mandel, H Williams, H Barrett, T Szargel, R McDonald, L Shalata, A Nosaka, K Gregory, S Cohen, N
Citation: V. Labay et al., Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness, NAT GENET, 22(3), 1999, pp. 300-304
Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene
Authors: Sprecher, E Lestringant, GG Szargel, R Bergman, R Labay, V Frossard, PM Friedman-Birnbaum, R Cohen, N
Citation: E. Sprecher et al., Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene, J INVES DER, 113(4), 1999, pp. 687-690
Identification of a genetic defect in the hairless gene in atrichia with papular lesions: Evidence for phenotypic heterogeneity among inherited atrichias
Authors: Sprecher, E Bergman, R Szargel, R Friedman-Birnbaum, R Cohen, N
Citation: E. Sprecher et al., Identification of a genetic defect in the hairless gene in atrichia with papular lesions: Evidence for phenotypic heterogeneity among inherited atrichias, AM J HU GEN, 64(5), 1999, pp. 1323-1329
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity
Authors: Raz, T Barrett, T Szargel, R Mandel, H Neufeld, EJ Nosaka, K Viana, MB Cohen, N
Citation: T. Raz et al., Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity, HUM GENET, 103(4), 1998, pp. 455-461
Atrichia with papular lesions maps to 8p in the region containing the human hairless gene
Authors: Sprecher, E Bergman, R Szargel, R Raz, T Labay, V Ramon, M Baruch-Gershoni, R Friedman-Birnbaum, R Cohen, N
Citation: E. Sprecher et al., Atrichia with papular lesions maps to 8p in the region containing the human hairless gene, AM J MED G, 80(5), 1998, pp. 546-550
Risultati: 1-11 |