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H Dollfus

Showing results (11-20 of 72) with videos related to

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Progress in Retinal and Eye Research|April 12, 2011
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathiesA Mockel, Y Perdomo, F Stutzmann, et al.
Journal of Dental Research|August 26, 2016
Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated GenesM K Prasad, S Laouina, M El Alloussi, et al.
The British Journal of Ophthalmology|February 4, 1999
Congenital toxoplasma chorioretinitis transmitted by preconceptionally immune womenH Dollfus, P Dureau, C Hennequin, et al.
Human Molecular Genetics|December 1, 1993
Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locusD Larget-Piet, J M Rozet, S Gerber, et al.
Genomics|August 1, 1993
Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25)H Dollfus, M G Mattei, J M Rozet, et al.
Ophthalmic Genetics|October 19, 2011
Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencingK Aliferis, S Hellé, G Gyapay, et al.
Advances in Experimental Medicine and Biology|January 8, 2021
Heimler SyndromeS Mechaussier, I Perrault, H Dollfus, et al.
Genomics|July 15, 1994
Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1L Oliveira, P Miniou, E Viegas-Pequignot, et al.
Pathologie-Biologie|May 13, 2006
Phenotype in X chromosome rearrangements: pitfalls of X inactivation studyC Schluth, M Cossée, F Girard-Lemaire, et al.
American Journal of Ophthalmology|December 4, 2001
Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutationF B Porto, G Mack, M J Sterboul, et al.
Pageof 8

Showing results (11-20 of 72) with videos related to

Sort By:
Pageof 8
Progress in Retinal and Eye Research|April 12, 2011
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathiesA Mockel, Y Perdomo, F Stutzmann, et al.
Journal of Dental Research|August 26, 2016
Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated GenesM K Prasad, S Laouina, M El Alloussi, et al.
The British Journal of Ophthalmology|February 4, 1999
Congenital toxoplasma chorioretinitis transmitted by preconceptionally immune womenH Dollfus, P Dureau, C Hennequin, et al.
Human Molecular Genetics|December 1, 1993
Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locusD Larget-Piet, J M Rozet, S Gerber, et al.
Genomics|August 1, 1993
Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25)H Dollfus, M G Mattei, J M Rozet, et al.
Ophthalmic Genetics|October 19, 2011
Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencingK Aliferis, S Hellé, G Gyapay, et al.
Advances in Experimental Medicine and Biology|January 8, 2021
Heimler SyndromeS Mechaussier, I Perrault, H Dollfus, et al.
Genomics|July 15, 1994
Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1L Oliveira, P Miniou, E Viegas-Pequignot, et al.
Pathologie-Biologie|May 13, 2006
Phenotype in X chromosome rearrangements: pitfalls of X inactivation studyC Schluth, M Cossée, F Girard-Lemaire, et al.
American Journal of Ophthalmology|December 4, 2001
Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutationF B Porto, G Mack, M J Sterboul, et al.
Pageof 8