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R Carmi

Showing results (91-100 of 103) with videos related to

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Nature Genetics|December 1, 1993
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneityA E Kwitek-Black, R Carmi, G M Duyk, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2001
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type CV Meiner, S Shpitzen, H Mandel, et al.
Genomics|July 20, 1999
The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23S W Gorman, N B Haider, U Grieshammer, et al.
Human Molecular Genetics|September 1, 1997
Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpointR Y Walder, H Shalev, T M Brennan, et al.
Gene|April 18, 2000
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2D A Scott, S Drury, R A Sundstrom, et al.
Human Mutation|May 26, 1998
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing lossD A Scott, M L Kraft, R Carmi, et al.
Nature Genetics|February 2, 2000
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fateN B Haider, S G Jacobson, A V Cideciyan, et al.
Genome Research|October 6, 1997
Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21J H Greinwald, D A Scott, J R Marietta, et al.
Nature Genetics|May 31, 2001
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4K Mykytyn, T Braun, R Carmi, et al.
Human Mutation|September 23, 1998
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish populationM Horowitz, M Pasmanik-Chor, Z Borochowitz, et al.
Pageof 11

Showing results (91-100 of 103) with videos related to

Sort By:
Pageof 11
Nature Genetics|December 1, 1993
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneityA E Kwitek-Black, R Carmi, G M Duyk, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2001
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type CV Meiner, S Shpitzen, H Mandel, et al.
Genomics|July 20, 1999
The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23S W Gorman, N B Haider, U Grieshammer, et al.
Human Molecular Genetics|September 1, 1997
Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpointR Y Walder, H Shalev, T M Brennan, et al.
Gene|April 18, 2000
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2D A Scott, S Drury, R A Sundstrom, et al.
Human Mutation|May 26, 1998
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing lossD A Scott, M L Kraft, R Carmi, et al.
Nature Genetics|February 2, 2000
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fateN B Haider, S G Jacobson, A V Cideciyan, et al.
Genome Research|October 6, 1997
Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21J H Greinwald, D A Scott, J R Marietta, et al.
Nature Genetics|May 31, 2001
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4K Mykytyn, T Braun, R Carmi, et al.
Human Mutation|September 23, 1998
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish populationM Horowitz, M Pasmanik-Chor, Z Borochowitz, et al.
Pageof 11