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Benjamin Cogné

Showing results (1-10 of 108) with videos related to

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Neurogenetics|June 1, 2023
Response to a letter to the editorJeanne Jury, Mathilde Nizon, Benjamin Cogné, et al.
Nature Medicine|June 6, 2014
NGS library preparation may generate artifactual integration sites of AAV vectorsBenjamin Cogné, Richard Snyder, Pierre Lindenbaum, et al.
American Journal of Medical Genetics. Part A|January 12, 2022
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variantJose Andres Morales, Irene Valenzuela, Ivon Cuscó, et al.
Prenatal Diagnosis|August 8, 2024
Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External PhenotypeJeanne Jury, Madeleine Joubert, Claudine Le Vaillant, et al.
Clinical Genetics|November 10, 2024
Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson SyndromeAntoine Civit, Nathalie Ronce, Benjamin Cogné, et al.
Journal of Medical Genetics|July 10, 2025
Commentary on <i>UBTF</i> haploinsufficiency associated with <i>UBTF</i>-related global developmental delay and distinctive facial features without neuroregressionTony Yammine, Sandra Mercier, Céline Poirsier, et al.
Journal of Neuropathology and Experimental Neurology|November 8, 2016
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal RegionJean-Michel Vallat, Mathilde Nizon, Alex Magee, et al.
Clinical Genetics|December 1, 2022
Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosisLeïla Ghesh, Julie Désir, Damien Haye, et al.
Clinical Genetics|September 2, 2024
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS)Jeanne Jury, Jean-François Benoist, Madeleine Joubert, et al.
Human Gene Therapy Methods|May 3, 2017
Accurate Identification and Quantification of DNA Species by Next-Generation Sequencing in Adeno-Associated Viral Vectors Produced in Insect CellsMagalie Penaud-Budloo, Emilie Lecomte, Aurélien Guy-Duché, et al.
Pageof 11

Showing results (1-10 of 108) with videos related to

Sort By:
Pageof 11
Neurogenetics|June 1, 2023
Response to a letter to the editorJeanne Jury, Mathilde Nizon, Benjamin Cogné, et al.
Nature Medicine|June 6, 2014
NGS library preparation may generate artifactual integration sites of AAV vectorsBenjamin Cogné, Richard Snyder, Pierre Lindenbaum, et al.
American Journal of Medical Genetics. Part A|January 12, 2022
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variantJose Andres Morales, Irene Valenzuela, Ivon Cuscó, et al.
Prenatal Diagnosis|August 8, 2024
Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External PhenotypeJeanne Jury, Madeleine Joubert, Claudine Le Vaillant, et al.
Clinical Genetics|November 10, 2024
Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson SyndromeAntoine Civit, Nathalie Ronce, Benjamin Cogné, et al.
Journal of Medical Genetics|July 10, 2025
Commentary on <i>UBTF</i> haploinsufficiency associated with <i>UBTF</i>-related global developmental delay and distinctive facial features without neuroregressionTony Yammine, Sandra Mercier, Céline Poirsier, et al.
Journal of Neuropathology and Experimental Neurology|November 8, 2016
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal RegionJean-Michel Vallat, Mathilde Nizon, Alex Magee, et al.
Clinical Genetics|December 1, 2022
Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosisLeïla Ghesh, Julie Désir, Damien Haye, et al.
Clinical Genetics|September 2, 2024
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS)Jeanne Jury, Jean-François Benoist, Madeleine Joubert, et al.
Human Gene Therapy Methods|May 3, 2017
Accurate Identification and Quantification of DNA Species by Next-Generation Sequencing in Adeno-Associated Viral Vectors Produced in Insect CellsMagalie Penaud-Budloo, Emilie Lecomte, Aurélien Guy-Duché, et al.
Pageof 11