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Valérie Biancalana

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Journal of Neuromuscular Diseases|November 19, 2016
Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated DiagnosisValérie Biancalana, Jocelyn Laporte
European Journal of Human Genetics : EJHG|September 18, 2014
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersValérie Biancalana, Dieter Glaeser, Shirley McQuaid, et al.
BMJ Case Reports|June 14, 2018
Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysisAndoni Echaniz-Laguna, Valérie Biancalana, Pauline Gaignard, et al.
Neuromuscular Disorders : NMD|January 26, 2007
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic studyIsabelle Pénisson-Besnier, Valérie Biancalana, Pascal Reynier, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotypeNasim Vasli, Vincent Laugel, Johann Böhm, et al.
Psychiatric Genetics|February 28, 2003
Clinical, cytogenetic, and molecular description of a FRAXE French familyGaëtan Lesca, Valérie Biancalana, Marie-Jo Brunel, et al.
Plos One|October 30, 2014
Integrative data mining highlights candidate genes for monogenic myopathiesOsorio Abath Neto, Olivier Tassy, Valérie Biancalana, et al.
Journal of Inherited Metabolic Disease|March 20, 2019
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective studyAndoni Echaniz-Laguna, Yann Nadjar, Anthony Béhin, et al.
Brain and Behavior|January 2, 2014
Extensive morphological and immunohistochemical characterization in myotubular myopathyMinobu Shichiji, Valérie Biancalana, Michel Fardeau, et al.
European Journal of Human Genetics : EJHG|December 25, 2003
Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromesElisabeth Flori, Valérie Biancalana, Françoise Girard-Lemaire, et al.
Pageof 6

Showing results (1-10 of 52) with videos related to

Sort By:
Pageof 6
Journal of Neuromuscular Diseases|November 19, 2016
Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated DiagnosisValérie Biancalana, Jocelyn Laporte
European Journal of Human Genetics : EJHG|September 18, 2014
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersValérie Biancalana, Dieter Glaeser, Shirley McQuaid, et al.
BMJ Case Reports|June 14, 2018
Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysisAndoni Echaniz-Laguna, Valérie Biancalana, Pauline Gaignard, et al.
Neuromuscular Disorders : NMD|January 26, 2007
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic studyIsabelle Pénisson-Besnier, Valérie Biancalana, Pascal Reynier, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotypeNasim Vasli, Vincent Laugel, Johann Böhm, et al.
Psychiatric Genetics|February 28, 2003
Clinical, cytogenetic, and molecular description of a FRAXE French familyGaëtan Lesca, Valérie Biancalana, Marie-Jo Brunel, et al.
Plos One|October 30, 2014
Integrative data mining highlights candidate genes for monogenic myopathiesOsorio Abath Neto, Olivier Tassy, Valérie Biancalana, et al.
Journal of Inherited Metabolic Disease|March 20, 2019
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective studyAndoni Echaniz-Laguna, Yann Nadjar, Anthony Béhin, et al.
Brain and Behavior|January 2, 2014
Extensive morphological and immunohistochemical characterization in myotubular myopathyMinobu Shichiji, Valérie Biancalana, Michel Fardeau, et al.
European Journal of Human Genetics : EJHG|December 25, 2003
Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromesElisabeth Flori, Valérie Biancalana, Françoise Girard-Lemaire, et al.
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