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Christèle Dubourg

Showing results (1-10 of 98) with videos related to

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Pediatric Dermatology|March 8, 2022
Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case reportMarion Rolland, Christèle Dubourg, Auriane Cospain, et al.
Clinical Genetics|February 22, 2024
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case reportAnaïk Previdi, Christèle Dubourg, Valérie Cormier Daire, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Holoprosencephaly: An update on cytogenetic abnormalitiesClaude Bendavid, Valérie Dupé, Lucie Rochard, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|April 28, 2022
Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific <i>CNOT1</i> VariantAuriane Cospain, Marie Faoucher, Aurélie Cauchois, et al.
Molecular Genetics and Metabolism|June 1, 2012
Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsyVirginie Vauthier, Sylvie Jaillard, Hubert Journel, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patientsDaniel E Pineda-Alvarez, Christèle Dubourg, Véronique David, et al.
Orphanet Journal of Rare Diseases|February 6, 2007
HoloprosencephalyChristèle Dubourg, Claude Bendavid, Laurent Pasquier, et al.
Gene|October 18, 2003
Promoter analysis of the human translation termination factor 1 geneChristèle Dubourg, Bertrand Toutain, Jean Yves Le Gall, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 23, 2018
Recent advances in understanding inheritance of holoprosencephalyChristèle Dubourg, Artem Kim, Erwan Watrin, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE)Sandra Mercier, Christèle Dubourg, Marion Belleguic, et al.
Pageof 10

Showing results (1-10 of 98) with videos related to

Sort By:
Pageof 10
Pediatric Dermatology|March 8, 2022
Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case reportMarion Rolland, Christèle Dubourg, Auriane Cospain, et al.
Clinical Genetics|February 22, 2024
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case reportAnaïk Previdi, Christèle Dubourg, Valérie Cormier Daire, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Holoprosencephaly: An update on cytogenetic abnormalitiesClaude Bendavid, Valérie Dupé, Lucie Rochard, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|April 28, 2022
Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific <i>CNOT1</i> VariantAuriane Cospain, Marie Faoucher, Aurélie Cauchois, et al.
Molecular Genetics and Metabolism|June 1, 2012
Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsyVirginie Vauthier, Sylvie Jaillard, Hubert Journel, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patientsDaniel E Pineda-Alvarez, Christèle Dubourg, Véronique David, et al.
Orphanet Journal of Rare Diseases|February 6, 2007
HoloprosencephalyChristèle Dubourg, Claude Bendavid, Laurent Pasquier, et al.
Gene|October 18, 2003
Promoter analysis of the human translation termination factor 1 geneChristèle Dubourg, Bertrand Toutain, Jean Yves Le Gall, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 23, 2018
Recent advances in understanding inheritance of holoprosencephalyChristèle Dubourg, Artem Kim, Erwan Watrin, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE)Sandra Mercier, Christèle Dubourg, Marion Belleguic, et al.
Pageof 10