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Anne-Françoise Roux

Showing results (1-10 of 65) with videos related to

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European Journal of Human Genetics : EJHG|November 25, 2021
Deafness-family mattersAnne-Françoise Roux
European Journal of Human Genetics : EJHG|June 24, 2011
Clinical utility gene card for: Usher syndromeHanno J Bolz, Anne-Françoise Roux
Molecular Diagnosis & Therapy|October 18, 2021
Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to DateVasiliki Kalatzis, Anne-Françoise Roux, Isabelle Meunier
European Journal of Human Genetics : EJHG|May 23, 2013
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locusLies H Hoefsloot, Anne-Françoise Roux, Maria Bitner-Glindzicz, et al.
Molecular Vision|February 6, 2007
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndromeSandie Le Guédard, Valérie Faugère, Sue Malcolm, et al.
BMC Medical Genetics|March 26, 2005
First molecular screening of deafness in the Altai Republic populationOlga Posukh, Nathalie Pallares-Ruiz, Vera Tadinova, et al.
European Journal of Human Genetics : EJHG|December 11, 2020
Correction: MobiDetails: online DNA variants interpretationDavid Baux, Charles Van Goethem, Olivier Ardouin, et al.
Stem Cell Research|March 6, 2022
Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosaCarla Sanjurjo-Soriano, Nejla Erkilic, Christel Vache, et al.
Scientific Reports|February 12, 2016
Assessment of the latest NGS enrichment capture methods in clinical contextGema García-García, David Baux, Valérie Faugère, et al.
The Laryngoscope|April 20, 2004
Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reportsFrédéric Venail, Anne-Françoise Roux, Nathalie Pallares-Ruiz, et al.
Pageof 7

Showing results (1-10 of 65) with videos related to

Sort By:
Pageof 7
European Journal of Human Genetics : EJHG|November 25, 2021
Deafness-family mattersAnne-Françoise Roux
European Journal of Human Genetics : EJHG|June 24, 2011
Clinical utility gene card for: Usher syndromeHanno J Bolz, Anne-Françoise Roux
Molecular Diagnosis & Therapy|October 18, 2021
Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to DateVasiliki Kalatzis, Anne-Françoise Roux, Isabelle Meunier
European Journal of Human Genetics : EJHG|May 23, 2013
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locusLies H Hoefsloot, Anne-Françoise Roux, Maria Bitner-Glindzicz, et al.
Molecular Vision|February 6, 2007
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndromeSandie Le Guédard, Valérie Faugère, Sue Malcolm, et al.
BMC Medical Genetics|March 26, 2005
First molecular screening of deafness in the Altai Republic populationOlga Posukh, Nathalie Pallares-Ruiz, Vera Tadinova, et al.
European Journal of Human Genetics : EJHG|December 11, 2020
Correction: MobiDetails: online DNA variants interpretationDavid Baux, Charles Van Goethem, Olivier Ardouin, et al.
Stem Cell Research|March 6, 2022
Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosaCarla Sanjurjo-Soriano, Nejla Erkilic, Christel Vache, et al.
Scientific Reports|February 12, 2016
Assessment of the latest NGS enrichment capture methods in clinical contextGema García-García, David Baux, Valérie Faugère, et al.
The Laryngoscope|April 20, 2004
Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reportsFrédéric Venail, Anne-Françoise Roux, Nathalie Pallares-Ruiz, et al.
Pageof 7