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Yline Capri

Showing results (51-60 of 93) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
GM3 synthase deficiency in non-Amish patientsSolveig Heide, Marie-Line Jacquemont, David Cheillan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.
American Journal of Human Genetics|September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorderHammad Yousaf, Maayke A de Koning, Kamal Khan, et al.
Biorxiv : the Preprint Server for Biology|March 27, 2026
Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsyRoberta Castelli, Carla Marini, Alessandro Porro, et al.
Clinical Genetics|April 9, 2026
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion SyndromeAmber S E van Oirsouw, Tzung-Chien Hsieh, Martijn Koetsier, et al.
American Journal of Human Genetics|May 28, 2019
Activating Mutations of RRAS2 Are a Rare Cause of Noonan SyndromeYline Capri, Elisabetta Flex, Oliver H F Krumbach, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, et al.
HGG Advances|August 30, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome functionGiovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.
Pageof 10

Showing results (51-60 of 93) with videos related to

Sort By:
Pageof 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
GM3 synthase deficiency in non-Amish patientsSolveig Heide, Marie-Line Jacquemont, David Cheillan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.
American Journal of Human Genetics|September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorderHammad Yousaf, Maayke A de Koning, Kamal Khan, et al.
Biorxiv : the Preprint Server for Biology|March 27, 2026
Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsyRoberta Castelli, Carla Marini, Alessandro Porro, et al.
Clinical Genetics|April 9, 2026
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion SyndromeAmber S E van Oirsouw, Tzung-Chien Hsieh, Martijn Koetsier, et al.
American Journal of Human Genetics|May 28, 2019
Activating Mutations of RRAS2 Are a Rare Cause of Noonan SyndromeYline Capri, Elisabetta Flex, Oliver H F Krumbach, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, et al.
HGG Advances|August 30, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome functionGiovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.
Pageof 10