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Mireille Claustres

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European Journal of Human Genetics : EJHG|June 4, 2015
Towards a European consensus for reporting incidental findings during clinical NGS testingJayne Y Hehir-Kwa, Mireille Claustres, Ros J Hastings, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 21, 2007
Association of bone morphogenetic proteins with otosclerosisIsabelle Schrauwen, Melissa Thys, Kathleen Vanderstraeten, et al.
The Journal of Clinical Investigation|May 5, 2010
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeInga Ebermann, Jennifer B Phillips, Max C Liebau, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|July 26, 2011
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practiceCatherine Costa, Virginie Pruliere-Escabasse, Alix de Becdelievre, et al.
Pediatric Research|December 8, 2010
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 yearChantal Stheneur, Laurence Faivre, Gwenaëlle Collod-Béroud, et al.
Human Mutation|December 8, 2011
Non-USH2A mutations in USH2 patientsThomas Besnard, Christel Vaché, David Baux, et al.
Fetal Diagnosis and Therapy|August 20, 2018
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic FibrosisClaire Guissart, Frédéric Tran Mau Them, Vanessa Debant, et al.
American Journal of Human Genetics|February 24, 2009
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosisIsabelle Schrauwen, Megan Ealy, Matthew J Huentelman, et al.
Investigative Ophthalmology & Visual Science|March 26, 2011
Four-year follow-up of diagnostic service in USH1 patientsAnne-Françoise Roux, Valérie Faugère, Christel Vaché, et al.
International Journal of Molecular Sciences|December 24, 2021
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>Luke Mansard, David Baux, Christel Vaché, et al.
Pageof 15

Showing results (111-120 of 149) with videos related to

Sort By:
Pageof 15
European Journal of Human Genetics : EJHG|June 4, 2015
Towards a European consensus for reporting incidental findings during clinical NGS testingJayne Y Hehir-Kwa, Mireille Claustres, Ros J Hastings, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 21, 2007
Association of bone morphogenetic proteins with otosclerosisIsabelle Schrauwen, Melissa Thys, Kathleen Vanderstraeten, et al.
The Journal of Clinical Investigation|May 5, 2010
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeInga Ebermann, Jennifer B Phillips, Max C Liebau, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|July 26, 2011
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practiceCatherine Costa, Virginie Pruliere-Escabasse, Alix de Becdelievre, et al.
Pediatric Research|December 8, 2010
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 yearChantal Stheneur, Laurence Faivre, Gwenaëlle Collod-Béroud, et al.
Human Mutation|December 8, 2011
Non-USH2A mutations in USH2 patientsThomas Besnard, Christel Vaché, David Baux, et al.
Fetal Diagnosis and Therapy|August 20, 2018
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic FibrosisClaire Guissart, Frédéric Tran Mau Them, Vanessa Debant, et al.
American Journal of Human Genetics|February 24, 2009
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosisIsabelle Schrauwen, Megan Ealy, Matthew J Huentelman, et al.
Investigative Ophthalmology & Visual Science|March 26, 2011
Four-year follow-up of diagnostic service in USH1 patientsAnne-Françoise Roux, Valérie Faugère, Christel Vaché, et al.
International Journal of Molecular Sciences|December 24, 2021
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>Luke Mansard, David Baux, Christel Vaché, et al.
Pageof 15