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

M Eng

Showing results (401-410 of 410) with videos related to

Pageof 41
Sort By:
You have reached the last page of results.This site can display upto 410 results.
American Journal of Human Genetics|March 28, 2017
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic FeaturesTeresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, et al.
Annals of Clinical and Translational Neurology|October 24, 2018
Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in femalesXia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.
American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.
American Journal of Human Genetics|January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsSeema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
Biorxiv : the Preprint Server for Biology|April 17, 2026
Topographic structure and function of locus coeruleus norepinephrine neuronsZhixiao Su, Polina Kosillo, Kanghoon Jung, et al.
JAMA Pediatrics|October 4, 2017
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical ManagementLinyan Meng, Mohan Pammi, Anirudh Saronwala, et al.
Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
American Journal of Human Genetics|February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesLindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
The Journal of Allergy and Clinical Immunology|September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disordersAsbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.
Pageof 41

Showing results (401-410 of 410) with videos related to

Sort By:
Pageof 41
You have reached the last page of results.This site can display upto 410 results.
American Journal of Human Genetics|March 28, 2017
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic FeaturesTeresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, et al.
Annals of Clinical and Translational Neurology|October 24, 2018
Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in femalesXia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.
American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.
American Journal of Human Genetics|January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsSeema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
Biorxiv : the Preprint Server for Biology|April 17, 2026
Topographic structure and function of locus coeruleus norepinephrine neuronsZhixiao Su, Polina Kosillo, Kanghoon Jung, et al.
JAMA Pediatrics|October 4, 2017
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical ManagementLinyan Meng, Mohan Pammi, Anirudh Saronwala, et al.
Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
American Journal of Human Genetics|February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesLindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
The Journal of Allergy and Clinical Immunology|September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disordersAsbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.
Pageof 41