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Showing results (601-610 of 621) with videos related to

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American Journal of Medical Genetics. Part A|May 27, 2017
Phenotypes and genotypes in individuals with SMC1A variantsSylvia Huisman, Paul A Mulder, Egbert Redeker, et al.
The Journal of Clinical Investigation|September 18, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse developmentXiaoxia Peng, Xiangbin Jia, Hanying Wang, et al.
Nature Reviews. Genetics|July 12, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statementAntonie D Kline, Joanna F Moss, Angelo Selicorni, et al.
Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.
Frontiers in Cell and Developmental Biology|December 26, 2022
The different clinical facets of <i>SYN1</i>-related neurodevelopmental disordersIlaria Parenti, Elsa Leitão, Alma Kuechler, et al.
Atmospheric Measurement Techniques|April 6, 2018
Instrumentation and Measurement Strategy for the NOAA SENEX Aircraft Campaign as Part of the Southeast Atmosphere Study 2013C Warneke, M Trainer, J A de Gouw, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, et al.
Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
International Journal of Cancer|January 24, 2019
Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinomaO Obazee, L Archibugi, A Andriulli, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Pageof 63

Showing results (601-610 of 621) with videos related to

Sort By:
Pageof 63
American Journal of Medical Genetics. Part A|May 27, 2017
Phenotypes and genotypes in individuals with SMC1A variantsSylvia Huisman, Paul A Mulder, Egbert Redeker, et al.
The Journal of Clinical Investigation|September 18, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse developmentXiaoxia Peng, Xiangbin Jia, Hanying Wang, et al.
Nature Reviews. Genetics|July 12, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statementAntonie D Kline, Joanna F Moss, Angelo Selicorni, et al.
Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.
Frontiers in Cell and Developmental Biology|December 26, 2022
The different clinical facets of <i>SYN1</i>-related neurodevelopmental disordersIlaria Parenti, Elsa Leitão, Alma Kuechler, et al.
Atmospheric Measurement Techniques|April 6, 2018
Instrumentation and Measurement Strategy for the NOAA SENEX Aircraft Campaign as Part of the Southeast Atmosphere Study 2013C Warneke, M Trainer, J A de Gouw, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, et al.
Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
International Journal of Cancer|January 24, 2019
Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinomaO Obazee, L Archibugi, A Andriulli, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Pageof 63