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H Dollfus

Showing results (31-40 of 72) with videos related to

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Human Genetics|January 26, 2002
Mutation spectrum and splicing variants in the OPA1 geneC Delettre, J M Griffoin, J Kaplan, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|April 1, 1995
Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS geneR Y Kim, H Dollfus, T J Keen, et al.
AJNR. American Journal of Neuroradiology|June 5, 2010
Neuroimaging in Cockayne syndromeM Koob, V Laugel, M Durand, et al.
European Journal of Human Genetics : EJHG|September 27, 2003
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31C Lagier-Tourenne, L Tranebaerg, D Chaigne, et al.
Clinical Genetics|November 15, 2017
FOXE3 mutations: genotype-phenotype correlationsJ Plaisancié, N K Ragge, H Dollfus, et al.
American Journal of Ophthalmology|March 25, 1998
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocationH Dollfus, O Joanny-Flinois, M Doco-Fenzy, et al.
Journal of Medical Genetics|July 17, 2008
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigationV Laugel, C Dalloz, E S Tobias, et al.
European Neurology|July 17, 2012
OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexiaX Ayrignac, C Liauzun, G Lenaers, et al.
Human Molecular Genetics|August 1, 1995
A gene for Leber's congenital amaurosis maps to chromosome 17pA Camuzat, H Dollfus, J M Rozet, et al.
Genomics|December 1, 1992
A gene for Usher syndrome type I (USH1A) maps to chromosome 14qJ Kaplan, S Gerber, D Bonneau, et al.
Pageof 8

Showing results (31-40 of 72) with videos related to

Sort By:
Pageof 8
Human Genetics|January 26, 2002
Mutation spectrum and splicing variants in the OPA1 geneC Delettre, J M Griffoin, J Kaplan, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|April 1, 1995
Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS geneR Y Kim, H Dollfus, T J Keen, et al.
AJNR. American Journal of Neuroradiology|June 5, 2010
Neuroimaging in Cockayne syndromeM Koob, V Laugel, M Durand, et al.
European Journal of Human Genetics : EJHG|September 27, 2003
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31C Lagier-Tourenne, L Tranebaerg, D Chaigne, et al.
Clinical Genetics|November 15, 2017
FOXE3 mutations: genotype-phenotype correlationsJ Plaisancié, N K Ragge, H Dollfus, et al.
American Journal of Ophthalmology|March 25, 1998
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocationH Dollfus, O Joanny-Flinois, M Doco-Fenzy, et al.
Journal of Medical Genetics|July 17, 2008
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigationV Laugel, C Dalloz, E S Tobias, et al.
European Neurology|July 17, 2012
OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexiaX Ayrignac, C Liauzun, G Lenaers, et al.
Human Molecular Genetics|August 1, 1995
A gene for Leber's congenital amaurosis maps to chromosome 17pA Camuzat, H Dollfus, J M Rozet, et al.
Genomics|December 1, 1992
A gene for Usher syndrome type I (USH1A) maps to chromosome 14qJ Kaplan, S Gerber, D Bonneau, et al.
Pageof 8