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Showing results (111-120 of 143) with videos related to

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The New England Journal of Medicine|June 1, 1995
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferensM Chillón, T Casals, B Mercier, et al.
Journal of Medical Genetics|November 5, 2002
Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patientsM P Reboul, E Bieth, M Fayon, et al.
Human Genetics|January 1, 1992
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European studyA J van Essen, S Abbs, M Baiget, et al.
Journal of Medical Genetics|May 9, 2006
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%A-F Roux, V Faugère, S Le Guédard, et al.
Journal of Medical Genetics|September 1, 1996
First report of CFTR mutations in black cystic fibrosis patients of southern African originS Carles, M Desgeorges, A Goldman, et al.
Journal of Molecular and Cellular Cardiology|May 1, 1997
Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defectsS Debrus, S Tuffery, R Matsuoka, et al.
Clinical Genetics|September 8, 2011
Audiological findings in 100 USH2 patientsC Abadie, C Blanchet, D Baux, et al.
Human Molecular Genetics|February 7, 2001
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth diseaseA Guilbot, A Williams, N Ravisé, et al.
Nature Genetics|November 5, 1997
Mutations in RPE65 cause Leber's congenital amaurosisF Marlhens, C Bareil, J M Griffoin, et al.
American Journal of Human Genetics|July 31, 1998
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populationsT Dörk, E H El-Harith, M Stuhrmann, et al.
Pageof 15

Showing results (111-120 of 143) with videos related to

Sort By:
Pageof 15
The New England Journal of Medicine|June 1, 1995
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferensM Chillón, T Casals, B Mercier, et al.
Journal of Medical Genetics|November 5, 2002
Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patientsM P Reboul, E Bieth, M Fayon, et al.
Human Genetics|January 1, 1992
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European studyA J van Essen, S Abbs, M Baiget, et al.
Journal of Medical Genetics|May 9, 2006
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%A-F Roux, V Faugère, S Le Guédard, et al.
Journal of Medical Genetics|September 1, 1996
First report of CFTR mutations in black cystic fibrosis patients of southern African originS Carles, M Desgeorges, A Goldman, et al.
Journal of Molecular and Cellular Cardiology|May 1, 1997
Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defectsS Debrus, S Tuffery, R Matsuoka, et al.
Clinical Genetics|September 8, 2011
Audiological findings in 100 USH2 patientsC Abadie, C Blanchet, D Baux, et al.
Human Molecular Genetics|February 7, 2001
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth diseaseA Guilbot, A Williams, N Ravisé, et al.
Nature Genetics|November 5, 1997
Mutations in RPE65 cause Leber's congenital amaurosisF Marlhens, C Bareil, J M Griffoin, et al.
American Journal of Human Genetics|July 31, 1998
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populationsT Dörk, E H El-Harith, M Stuhrmann, et al.
Pageof 15