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Christophe Philippe

Showing results (11-20 of 150) with videos related to

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Human Mutation|May 4, 2021
Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variantsStephanie Moortgat, Isabelle Manfroid, Hélène Pendeville, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosisJulie Auger, Céline Bonnet, Mylène Valduga, et al.
Pathology|July 1, 2011
BRAF, p53 and SOX2 in anaplastic thyroid carcinoma: evidence for multistep carcinogenesisGuillaume Gauchotte, Christophe Philippe, Stéphanie Lacomme, et al.
Journal of Human Genetics|February 27, 2015
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal periodMylène Valduga, Christophe Philippe, Laetitia Lambert, et al.
European Journal of Medical Genetics|July 11, 2006
Deleterious mutations in exon 1 of MECP2 in Rett syndromeAline Quenard, Saliha Yilmaz, Hervé Fontaine, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplicationJuliette Piard, Christophe Philippe, Marie Marvier, et al.
Human Mutation|November 30, 2011
Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disabilityCéline Bonnet, Alice Masurel-Paulet, Asma Ali Khan, et al.
European Journal of Medical Genetics|July 13, 2007
Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGHSaliha Yilmaz, Hervé Fontaine, Karène Brochet, et al.
Clinical Genetics|November 27, 2024
Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature ReviewEmilie Sjøstrøm, Ange-Line Bruel, Christophe Philippe, et al.
European Journal of Human Genetics : EJHG|May 15, 2008
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletionsMylène Béri-Dexheimer, Véronique Latger-Cannard, Christophe Philippe, et al.
Pageof 15

Showing results (11-20 of 150) with videos related to

Sort By:
Pageof 15
Human Mutation|May 4, 2021
Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variantsStephanie Moortgat, Isabelle Manfroid, Hélène Pendeville, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosisJulie Auger, Céline Bonnet, Mylène Valduga, et al.
Pathology|July 1, 2011
BRAF, p53 and SOX2 in anaplastic thyroid carcinoma: evidence for multistep carcinogenesisGuillaume Gauchotte, Christophe Philippe, Stéphanie Lacomme, et al.
Journal of Human Genetics|February 27, 2015
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal periodMylène Valduga, Christophe Philippe, Laetitia Lambert, et al.
European Journal of Medical Genetics|July 11, 2006
Deleterious mutations in exon 1 of MECP2 in Rett syndromeAline Quenard, Saliha Yilmaz, Hervé Fontaine, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplicationJuliette Piard, Christophe Philippe, Marie Marvier, et al.
Human Mutation|November 30, 2011
Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disabilityCéline Bonnet, Alice Masurel-Paulet, Asma Ali Khan, et al.
European Journal of Medical Genetics|July 13, 2007
Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGHSaliha Yilmaz, Hervé Fontaine, Karène Brochet, et al.
Clinical Genetics|November 27, 2024
Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature ReviewEmilie Sjøstrøm, Ange-Line Bruel, Christophe Philippe, et al.
European Journal of Human Genetics : EJHG|May 15, 2008
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletionsMylène Béri-Dexheimer, Véronique Latger-Cannard, Christophe Philippe, et al.
Pageof 15