Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Marieke F van Dooren

Showing results (21-30 of 33) with videos related to

Pageof 4
Sort By:
Human Genetics|May 14, 2018
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunctionMieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2019
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsyMaria J Nabais Sá, Hanka Venselaar, Laurens Wiel, et al.
American Journal of Human Genetics|November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical DefectsAnna R Duncan, Antonio Vitobello, Stephan C Collins, et al.
American Journal of Human Genetics|March 26, 2019
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental DisorderEduardo Calpena, Alexia Hervieu, Teresa Kaserer, et al.
European Journal of Human Genetics : EJHG|December 22, 2016
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The NetherlandsCelia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, et al.
European Journal of Human Genetics : EJHG|July 29, 2025
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disordersDaphne J Smits, Christophe Debuy, Alice S Brooks, et al.
European Journal of Public Health|June 21, 2024
Genetic counselling legislation and practice in cancer in EU Member StatesJ Matt McCrary, Els Van Valckenborgh, Hélène A Poirel, et al.
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
Nature Biotechnology|August 18, 2014
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotypingPaula J P de Vree, Elzo de Wit, Mehmet Yilmaz, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
Pageof 4

Showing results (21-30 of 33) with videos related to

Sort By:
Pageof 4
Human Genetics|May 14, 2018
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunctionMieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2019
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsyMaria J Nabais Sá, Hanka Venselaar, Laurens Wiel, et al.
American Journal of Human Genetics|November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical DefectsAnna R Duncan, Antonio Vitobello, Stephan C Collins, et al.
American Journal of Human Genetics|March 26, 2019
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental DisorderEduardo Calpena, Alexia Hervieu, Teresa Kaserer, et al.
European Journal of Human Genetics : EJHG|December 22, 2016
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The NetherlandsCelia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, et al.
European Journal of Human Genetics : EJHG|July 29, 2025
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disordersDaphne J Smits, Christophe Debuy, Alice S Brooks, et al.
European Journal of Public Health|June 21, 2024
Genetic counselling legislation and practice in cancer in EU Member StatesJ Matt McCrary, Els Van Valckenborgh, Hélène A Poirel, et al.
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
Nature Biotechnology|August 18, 2014
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotypingPaula J P de Vree, Elzo de Wit, Mehmet Yilmaz, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
Pageof 4