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Mireille Claustres

Showing results (71-80 of 149) with videos related to

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Journal of Neurosurgery|August 18, 2004
Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term resultsPhilippe Coubes, Laura Cif, Hassan El Fertit, et al.
European Journal of Human Genetics : EJHG|April 19, 2012
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD geneAliya Ishmukhametova, Philippe Khau Van Kien, Déborah Méchin, et al.
Human Mutation|November 2, 2019
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disordersSouphatta Sasorith, David Baux, Anne Bergougnoux, et al.
Human Molecular Genetics|September 11, 2014
Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndromeClaire Guissart, Xiuju Li, Bruno Leheup, et al.
Reproductive Biomedicine Online|December 6, 2017
Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital serviceAnne Girardet, Aliya Ishmukhametova, Victoria Viart, et al.
Nucleic Acids Research|February 10, 2015
FUBP1: a new protagonist in splicing regulation of the DMD geneJulie Miro, Abdelhamid Mahdi Laaref, Valérie Rofidal, et al.
Orphanet Journal of Rare Diseases|August 9, 2013
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencingHeather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, et al.
European Journal of Medical Genetics|April 21, 2009
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1FFatima Ammar-Khodja, Valérie Faugère, David Baux, et al.
European Journal of Human Genetics : EJHG|February 11, 2010
The USH2A c.2299delG mutation: dating its common origin in a Southern European populationElena Aller, Lise Larrieu, Teresa Jaijo, et al.
Clinical Chemistry and Laboratory Medicine|February 11, 2018
Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technologyAnne Bergougnoux, Valeria D'Argenio, Stefanie Sollfrank, et al.
Pageof 15

Showing results (71-80 of 149) with videos related to

Sort By:
Pageof 15
Journal of Neurosurgery|August 18, 2004
Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term resultsPhilippe Coubes, Laura Cif, Hassan El Fertit, et al.
European Journal of Human Genetics : EJHG|April 19, 2012
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD geneAliya Ishmukhametova, Philippe Khau Van Kien, Déborah Méchin, et al.
Human Mutation|November 2, 2019
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disordersSouphatta Sasorith, David Baux, Anne Bergougnoux, et al.
Human Molecular Genetics|September 11, 2014
Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndromeClaire Guissart, Xiuju Li, Bruno Leheup, et al.
Reproductive Biomedicine Online|December 6, 2017
Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital serviceAnne Girardet, Aliya Ishmukhametova, Victoria Viart, et al.
Nucleic Acids Research|February 10, 2015
FUBP1: a new protagonist in splicing regulation of the DMD geneJulie Miro, Abdelhamid Mahdi Laaref, Valérie Rofidal, et al.
Orphanet Journal of Rare Diseases|August 9, 2013
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencingHeather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, et al.
European Journal of Medical Genetics|April 21, 2009
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1FFatima Ammar-Khodja, Valérie Faugère, David Baux, et al.
European Journal of Human Genetics : EJHG|February 11, 2010
The USH2A c.2299delG mutation: dating its common origin in a Southern European populationElena Aller, Lise Larrieu, Teresa Jaijo, et al.
Clinical Chemistry and Laboratory Medicine|February 11, 2018
Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technologyAnne Bergougnoux, Valeria D'Argenio, Stefanie Sollfrank, et al.
Pageof 15