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Berten Ceulemans

Showing results (121-130 of 137) with videos related to

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American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, et al.
European Journal of Human Genetics : EJHG|July 1, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disordersMatthias De Wachter, Mathijs B van der Lei, Amber Decleve, et al.
Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.
Annals of Neurology|August 22, 2023
GABRA1-Related Disorders: From Genetic to Functional PathwaysElisa Musto, Vivian W Y Liao, Katrine M Johannesen, et al.
Journal of Medical Genetics|July 24, 2017
<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entityIlse Meerschaut, Daniel Rochefort, Nicole Revençu, et al.
Brain : a Journal of Neurology|June 11, 2021
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrumClaudia M Bonardi, Henrike O Heyne, Martina Fiannacca, et al.
The Journal of Clinical Investigation|August 8, 2017
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infectionsBenson Ogunjimi, Shen-Ying Zhang, Katrine B Sørensen, et al.
Human Mutation|December 16, 2017
Autosomal recessive primary microcephaly due to ASPM mutations: An updatePascaline Létard, Séverine Drunat, Yoann Vial, et al.
Epilepsia|May 27, 2020
Lessons learned from 40 novel PIGA patients and a review of the literatureAllan Bayat, Alexej Knaus, Manuela Pendziwiat, et al.
HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
Pageof 14

Showing results (121-130 of 137) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, et al.
European Journal of Human Genetics : EJHG|July 1, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disordersMatthias De Wachter, Mathijs B van der Lei, Amber Decleve, et al.
Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.
Annals of Neurology|August 22, 2023
GABRA1-Related Disorders: From Genetic to Functional PathwaysElisa Musto, Vivian W Y Liao, Katrine M Johannesen, et al.
Journal of Medical Genetics|July 24, 2017
<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entityIlse Meerschaut, Daniel Rochefort, Nicole Revençu, et al.
Brain : a Journal of Neurology|June 11, 2021
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrumClaudia M Bonardi, Henrike O Heyne, Martina Fiannacca, et al.
The Journal of Clinical Investigation|August 8, 2017
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infectionsBenson Ogunjimi, Shen-Ying Zhang, Katrine B Sørensen, et al.
Human Mutation|December 16, 2017
Autosomal recessive primary microcephaly due to ASPM mutations: An updatePascaline Létard, Séverine Drunat, Yoann Vial, et al.
Epilepsia|May 27, 2020
Lessons learned from 40 novel PIGA patients and a review of the literatureAllan Bayat, Alexej Knaus, Manuela Pendziwiat, et al.
HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
Pageof 14