D Bozon - JoVE Visualize

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Genomics|May 1, 1991

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) geneJ Zielenski, D Bozon, B Kerem, et al.

Clinical Genetics|July 11, 1998

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patientsR Froissart, I Maire, G Millat, et al.

Genomics|May 1, 1991

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) geneJ Zielenski, R Rozmahel, D Bozon, et al.

Human Mutation|March 29, 2000

Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1P K Nogueira, T S Vuong, O Bouton, et al.

Human Genetics|January 1, 1989

Confirmation of linkage disequilibrium between haplotype B (XV-2c, allele 1; KM-19, allele 2) and cystic fibrosis allele in the French populationM Vidaud, A Kitzis, C Ferec, et al.

Journal De Genetique Humaine|January 1, 1989

[Contribution of molecular biology to the prevention of cystic fibrosis. Experience in Lyon]P Guibaud, M Auvinet, D Bozon, et al.

European Journal of Pediatrics|December 22, 1999

Combined liver-kidney transplantation in primary hyperoxaluria type 1P Cochat, J M Gaulier, P C Koch Nogueira, et al.

Proceedings of the National Academy of Sciences of the United States of America|November 1, 1990

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis geneB S Kerem, J Zielenski, D Markiewicz, et al.

Human Genetics|September 10, 1999

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) aloneM C Romey, C Guittard, J P Chazalette, et al.

Clinical Genetics|March 25, 2018

Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategyO Marmontel, S Charrière, T Simonet, et al.

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Showing results (21-30 of 31) with videos related to

Sort By:

Pageof 4

Genomics|May 1, 1991

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) geneJ Zielenski, D Bozon, B Kerem, et al.

Clinical Genetics|July 11, 1998

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patientsR Froissart, I Maire, G Millat, et al.

Genomics|May 1, 1991

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) geneJ Zielenski, R Rozmahel, D Bozon, et al.

Human Mutation|March 29, 2000

Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1P K Nogueira, T S Vuong, O Bouton, et al.

Human Genetics|January 1, 1989

Confirmation of linkage disequilibrium between haplotype B (XV-2c, allele 1; KM-19, allele 2) and cystic fibrosis allele in the French populationM Vidaud, A Kitzis, C Ferec, et al.

Journal De Genetique Humaine|January 1, 1989

[Contribution of molecular biology to the prevention of cystic fibrosis. Experience in Lyon]P Guibaud, M Auvinet, D Bozon, et al.

European Journal of Pediatrics|December 22, 1999

Combined liver-kidney transplantation in primary hyperoxaluria type 1P Cochat, J M Gaulier, P C Koch Nogueira, et al.

Proceedings of the National Academy of Sciences of the United States of America|November 1, 1990

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis geneB S Kerem, J Zielenski, D Markiewicz, et al.

Human Genetics|September 10, 1999

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) aloneM C Romey, C Guittard, J P Chazalette, et al.

Clinical Genetics|March 25, 2018

Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategyO Marmontel, S Charrière, T Simonet, et al.

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