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D Grinberg

Showing results (41-50 of 60) with videos related to

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Human Mutation|January 1, 1995
Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosaM Bayés, M Giordano, S Balcells, et al.
Human Genetics|January 1, 1996
A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous familyD Valverde, T Solans, D Grinberg, et al.
Clinical Genetics|November 1, 1996
Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the diseaseM Bayés, A Martínez-Mir, D Valverde, et al.
European Journal of Endocrinology|November 7, 2007
Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal womenM Bustamante, X Nogués, L Mellibovsky, et al.
European Journal of Clinical Investigation|February 13, 2001
Homocysteine and the MTHFR 677C-->T allele in premature coronary artery disease. Case control and family studiesX Pintó, M A Vilaseca, N Garcia-Giralt, et al.
Journal of Molecular Endocrinology|June 26, 2015
CYP11A1 expression in bone is associated with aromatase inhibitor-related bone lossM Rodríguez-Sanz, N García-Giralt, D Prieto-Alhambra, et al.
Journal of Medical Genetics|September 1, 1995
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutationA Chabás, B Cormand, D Grinberg, et al.
Human Mutation|January 1, 1996
Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosaD Valverde, M Baiget, R Seminago, et al.
Clinical Genetics|September 10, 2010
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant allelesI Canals, S C Elalaoui, M Pineda, et al.
Genomics|February 15, 1997
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21A Martínez-Mir, M Bayés, L Vilageliu, et al.
Pageof 6

Showing results (41-50 of 60) with videos related to

Sort By:
Pageof 6
Human Mutation|January 1, 1995
Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosaM Bayés, M Giordano, S Balcells, et al.
Human Genetics|January 1, 1996
A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous familyD Valverde, T Solans, D Grinberg, et al.
Clinical Genetics|November 1, 1996
Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the diseaseM Bayés, A Martínez-Mir, D Valverde, et al.
European Journal of Endocrinology|November 7, 2007
Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal womenM Bustamante, X Nogués, L Mellibovsky, et al.
European Journal of Clinical Investigation|February 13, 2001
Homocysteine and the MTHFR 677C-->T allele in premature coronary artery disease. Case control and family studiesX Pintó, M A Vilaseca, N Garcia-Giralt, et al.
Journal of Molecular Endocrinology|June 26, 2015
CYP11A1 expression in bone is associated with aromatase inhibitor-related bone lossM Rodríguez-Sanz, N García-Giralt, D Prieto-Alhambra, et al.
Journal of Medical Genetics|September 1, 1995
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutationA Chabás, B Cormand, D Grinberg, et al.
Human Mutation|January 1, 1996
Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosaD Valverde, M Baiget, R Seminago, et al.
Clinical Genetics|September 10, 2010
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant allelesI Canals, S C Elalaoui, M Pineda, et al.
Genomics|February 15, 1997
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21A Martínez-Mir, M Bayés, L Vilageliu, et al.
Pageof 6