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A R Janecke

Showing results (11-20 of 17) with videos related to

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Human Mutation|March 27, 1999
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneityA R Janecke, M Meins, M Sadeghi, et al.
Human Genetics|May 14, 1999
Molecular diagnosis of type 1c glycogen storage diseaseA R Janecke, N U Bosshard, E Mayatepek, et al.
The British Journal of Ophthalmology|September 20, 2005
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosaA Schuster, N Weisschuh, H Jägle, et al.
Human Genetics|November 9, 2000
Mutation analysis in glycogen storage disease type 1 non-aA R Janecke, M Lindner, M Erdel, et al.
Journal of Medical Genetics|June 27, 2001
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3E Haberlandt, J Löffler, A Hirst-Stadlmann, et al.
Neuropediatrics|May 28, 2008
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndromeM Auer-Grumbach, C Fischer, L Papić, et al.
Journal of Medical Genetics|April 7, 2009
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Human Mutation|March 27, 1999
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneityA R Janecke, M Meins, M Sadeghi, et al.
Human Genetics|May 14, 1999
Molecular diagnosis of type 1c glycogen storage diseaseA R Janecke, N U Bosshard, E Mayatepek, et al.
The British Journal of Ophthalmology|September 20, 2005
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosaA Schuster, N Weisschuh, H Jägle, et al.
Human Genetics|November 9, 2000
Mutation analysis in glycogen storage disease type 1 non-aA R Janecke, M Lindner, M Erdel, et al.
Journal of Medical Genetics|June 27, 2001
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3E Haberlandt, J Löffler, A Hirst-Stadlmann, et al.
Neuropediatrics|May 28, 2008
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndromeM Auer-Grumbach, C Fischer, L Papić, et al.
Journal of Medical Genetics|April 7, 2009
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.
Pageof 2