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Catherine Vincent

Showing results (161-170 of 188) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2021
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 28, 2017
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndromeMarine Legendre, Véronique Abadie, Tania Attié-Bitach, et al.
Nature|April 8, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Human Mutation|November 1, 2020
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxyHui Liu, Anna-Gaëlle Giguet-Valard, Thomas Simonet, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutationsFlorence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.
JHEP Reports : Innovation in Hepatology|October 9, 2024
Loss of biochemical response at any time worsens outcomes in UDCA-treated patients with primary biliary cholangitisSurain B Roberts, Woo Jin Choi, Lawrence Worobetz, et al.
Human Genetics|December 20, 2023
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individualsAriane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, et al.
American Journal of Medical Genetics. Part A|November 17, 2023
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited casesGuillaume Jedraszak, Florence Jobic, Aline Receveur, et al.
American Journal of Medical Genetics. Part A|September 21, 2016
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutationsPatricia Fergelot, Martine Van Belzen, Julien Van Gils, et al.
Journal of Medical Genetics|January 11, 2025
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendationsMédéric Jeanne, Nathalie Ronce, Solène Remizé, et al.
Pageof 19

Showing results (161-170 of 188) with videos related to

Sort By:
Pageof 19
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2021
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalitiesVirginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 28, 2017
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndromeMarine Legendre, Véronique Abadie, Tania Attié-Bitach, et al.
Nature|April 8, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Human Mutation|November 1, 2020
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxyHui Liu, Anna-Gaëlle Giguet-Valard, Thomas Simonet, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutationsFlorence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.
JHEP Reports : Innovation in Hepatology|October 9, 2024
Loss of biochemical response at any time worsens outcomes in UDCA-treated patients with primary biliary cholangitisSurain B Roberts, Woo Jin Choi, Lawrence Worobetz, et al.
Human Genetics|December 20, 2023
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individualsAriane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, et al.
American Journal of Medical Genetics. Part A|November 17, 2023
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited casesGuillaume Jedraszak, Florence Jobic, Aline Receveur, et al.
American Journal of Medical Genetics. Part A|September 21, 2016
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutationsPatricia Fergelot, Martine Van Belzen, Julien Van Gils, et al.
Journal of Medical Genetics|January 11, 2025
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendationsMédéric Jeanne, Nathalie Ronce, Solène Remizé, et al.
Pageof 19