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H Dollfus

Showing results (51-60 of 72) with videos related to

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Clinical Genetics|June 4, 2014
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disordersA Chaussenot, C Rouzier, M Quere, et al.
Clinical Genetics|March 13, 2003
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscleH Dollfus, C Stoetzel, S Riehm, et al.
Archives of Disease in Childhood|January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysL Pasquier, V Laugel, L Lazaro, et al.
Clinical Genetics|May 23, 2013
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutationsE Schaefer, J Lauer, M Durand, et al.
Clinical Genetics|April 27, 2011
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary ciliaV Bennouna-Greene, S Kremer, C Stoetzel, et al.
Clinical Genetics|January 21, 2017
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype studyC Tardieu, S Jung, K Niederreither, et al.
Clinical Genetics|October 19, 2010
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated malesD Germanaud, M Rossi, G Bussy, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|October 13, 2000
Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhoodH Dollfus, R Häfner, H M Hofmann, et al.
Journal of Medical Genetics|September 3, 2004
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataractP Reynier, P Amati-Bonneau, C Verny, et al.
Ophthalmic Genetics|September 27, 2002
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophyD Marchant, K Gogat, P Dureau, et al.
Pageof 8

Showing results (51-60 of 72) with videos related to

Sort By:
Pageof 8
Clinical Genetics|June 4, 2014
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disordersA Chaussenot, C Rouzier, M Quere, et al.
Clinical Genetics|March 13, 2003
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscleH Dollfus, C Stoetzel, S Riehm, et al.
Archives of Disease in Childhood|January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysL Pasquier, V Laugel, L Lazaro, et al.
Clinical Genetics|May 23, 2013
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutationsE Schaefer, J Lauer, M Durand, et al.
Clinical Genetics|April 27, 2011
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary ciliaV Bennouna-Greene, S Kremer, C Stoetzel, et al.
Clinical Genetics|January 21, 2017
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype studyC Tardieu, S Jung, K Niederreither, et al.
Clinical Genetics|October 19, 2010
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated malesD Germanaud, M Rossi, G Bussy, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|October 13, 2000
Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhoodH Dollfus, R Häfner, H M Hofmann, et al.
Journal of Medical Genetics|September 3, 2004
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataractP Reynier, P Amati-Bonneau, C Verny, et al.
Ophthalmic Genetics|September 27, 2002
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophyD Marchant, K Gogat, P Dureau, et al.
Pageof 8