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

Karin Weiss

Showing results (51-60 of 59) with videos related to

Pageof 6
Sort By:
You have reached the last page of results.This site can display upto 59 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
JAMA Network Open|February 22, 2024
National Rapid Genome Sequencing in Neonatal Intensive CareDaphna Marom, Adi Mory, Sivan Reytan-Miron, et al.
European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeKimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, et al.
American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.
European Journal of Human Genetics : EJHG|October 25, 2024
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlationsAngela Peron, Felice D'Arco, Kimberly A Aldinger, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathwaysFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Nature Communications|April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethalityFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
American Journal of Human Genetics|February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.
Pageof 6

Showing results (51-60 of 59) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 59 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
JAMA Network Open|February 22, 2024
National Rapid Genome Sequencing in Neonatal Intensive CareDaphna Marom, Adi Mory, Sivan Reytan-Miron, et al.
European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeKimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, et al.
American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.
European Journal of Human Genetics : EJHG|October 25, 2024
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlationsAngela Peron, Felice D'Arco, Kimberly A Aldinger, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathwaysFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Nature Communications|April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethalityFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
American Journal of Human Genetics|February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.
Pageof 6