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

Øyvind L Busk

Showing results (11-20 of 18) with videos related to

Pageof 2
Sort By:
You have reached the last page of results.This site can display upto 18 results.
American Journal of Human Genetics|June 25, 2019
De Novo Variants in TAOK1 Cause Neurodevelopmental DisordersMarija Dulovic-Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, et al.
Brain Communications|April 8, 2024
Repeat expansions in <i>AR</i>, <i>ATXN1</i>, <i>ATXN2</i> and <i>HTT</i> in Norwegian patients diagnosed with amyotrophic lateral sclerosisCamilla Novy, Øyvind L Busk, Ole-Bjørn Tysnes, et al.
American Journal of Medical Genetics. Part A|September 13, 2021
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobinCharlotte von der Lippe, Kristian Tveten, Trine E Prescott, et al.
American Journal of Human Genetics|October 29, 2024
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemiaScott Barish, Sheng-Jia Lin, Reza Maroofian, et al.
Genome Medicine|May 22, 2021
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersIlaria Mannucci, Nghi D P Dang, Hannes Huber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
American Journal of Human Genetics|June 25, 2019
De Novo Variants in TAOK1 Cause Neurodevelopmental DisordersMarija Dulovic-Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, et al.
Brain Communications|April 8, 2024
Repeat expansions in <i>AR</i>, <i>ATXN1</i>, <i>ATXN2</i> and <i>HTT</i> in Norwegian patients diagnosed with amyotrophic lateral sclerosisCamilla Novy, Øyvind L Busk, Ole-Bjørn Tysnes, et al.
American Journal of Medical Genetics. Part A|September 13, 2021
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobinCharlotte von der Lippe, Kristian Tveten, Trine E Prescott, et al.
American Journal of Human Genetics|October 29, 2024
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemiaScott Barish, Sheng-Jia Lin, Reza Maroofian, et al.
Genome Medicine|May 22, 2021
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersIlaria Mannucci, Nghi D P Dang, Hannes Huber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
Pageof 2