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Benoit Arveiler

Showing results (51-60 of 82) with videos related to

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Pigment Cell & Melanoma Research|October 15, 2013
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 geneFanny Morice-Picard, Eulalie Lasseaux, Dorothée Cailley, et al.
Investigative Ophthalmology & Visual Science|September 14, 2023
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference CenterPaul-Henri Seguy, Jean-François Korobelnik, Marie-Noëlle Delyfer, et al.
Human Molecular Genetics|February 26, 2010
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasiaDelphine Simon, Benoit Laloo, Malika Barillot, et al.
The Journal of Investigative Dermatology|August 30, 2013
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinismFanny Morice-Picard, Eulalie Lasseaux, Stéphane François, et al.
Clinical Genetics|November 7, 2019
Clinical variability and probable founder effect in oculocutaneous albinism type 7Pauline Bataille, Vincent Michaud, Matthieu P Robert, et al.
European Journal of Medical Genetics|February 28, 2012
Atypical male and female presentations of FLNA-related periventricular nodular heterotopiaPatricia Fergelot, Isabelle Coupry, Caroline Rooryck, et al.
Epilepsia|July 19, 2011
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patientsCyril Mignot, Marie-Laure Moutard, Oriane Trouillard, et al.
Journal of Medical Genetics|July 1, 2016
Mutations in <i>MYT1</i>, encoding the myelin transcription factor 1, are a rare cause of OAVSEstelle Lopez, Marie Berenguer, Angèle Tingaud-Sequeira, et al.
Plos One|June 16, 2017
ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin DeficiencyPhilippe Joly, Hélène Vignaud, Julie Di Martino, et al.
Clinical Genetics|January 12, 2019
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutationsJulien Van-Gils, Sophie Naudion, Jérôme Toutain, et al.
Pageof 9

Showing results (51-60 of 82) with videos related to

Sort By:
Pageof 9
Pigment Cell & Melanoma Research|October 15, 2013
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 geneFanny Morice-Picard, Eulalie Lasseaux, Dorothée Cailley, et al.
Investigative Ophthalmology & Visual Science|September 14, 2023
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference CenterPaul-Henri Seguy, Jean-François Korobelnik, Marie-Noëlle Delyfer, et al.
Human Molecular Genetics|February 26, 2010
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasiaDelphine Simon, Benoit Laloo, Malika Barillot, et al.
The Journal of Investigative Dermatology|August 30, 2013
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinismFanny Morice-Picard, Eulalie Lasseaux, Stéphane François, et al.
Clinical Genetics|November 7, 2019
Clinical variability and probable founder effect in oculocutaneous albinism type 7Pauline Bataille, Vincent Michaud, Matthieu P Robert, et al.
European Journal of Medical Genetics|February 28, 2012
Atypical male and female presentations of FLNA-related periventricular nodular heterotopiaPatricia Fergelot, Isabelle Coupry, Caroline Rooryck, et al.
Epilepsia|July 19, 2011
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patientsCyril Mignot, Marie-Laure Moutard, Oriane Trouillard, et al.
Journal of Medical Genetics|July 1, 2016
Mutations in <i>MYT1</i>, encoding the myelin transcription factor 1, are a rare cause of OAVSEstelle Lopez, Marie Berenguer, Angèle Tingaud-Sequeira, et al.
Plos One|June 16, 2017
ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin DeficiencyPhilippe Joly, Hélène Vignaud, Julie Di Martino, et al.
Clinical Genetics|January 12, 2019
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutationsJulien Van-Gils, Sophie Naudion, Jérôme Toutain, et al.
Pageof 9