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

J Amor

Showing results (361-370 of 430) with videos related to

Pageof 43
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 testsAlison Dalton Archibald, Melanie Jane Smith, Trent Burgess, et al.
Human Mutation|June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yieldAlan Ma, John R Grigg, Maree Flaherty, et al.
JAMA Pediatrics|August 1, 2017
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic ConditionsTiong Yang Tan, Oliver James Dillon, Zornitza Stark, et al.
Journal of Inherited Metabolic Disease|March 18, 2021
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypesHind Alsharhan, Miao He, Andrew C Edmondson, et al.
American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
Nature|July 13, 2022
Structure-function analysis of the SHOC2-MRAS-PP1C holophosphatase complexJason J Kwon, Behnoush Hajian, Yuemin Bian, et al.
Neurogastroenterology and Motility|May 22, 2018
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstructionG Ravenscroft, S Pannell, G O'Grady, et al.
Journal of Child Neurology|April 10, 2019
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral PalsyAlastair H MacLennan, Sara Lewis, Andres Moreno-De-Luca, et al.
Molecular Psychiatry|September 18, 2022
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Pageof 43

Showing results (361-370 of 430) with videos related to

Sort By:
Pageof 43
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 testsAlison Dalton Archibald, Melanie Jane Smith, Trent Burgess, et al.
Human Mutation|June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yieldAlan Ma, John R Grigg, Maree Flaherty, et al.
JAMA Pediatrics|August 1, 2017
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic ConditionsTiong Yang Tan, Oliver James Dillon, Zornitza Stark, et al.
Journal of Inherited Metabolic Disease|March 18, 2021
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypesHind Alsharhan, Miao He, Andrew C Edmondson, et al.
American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
Nature|July 13, 2022
Structure-function analysis of the SHOC2-MRAS-PP1C holophosphatase complexJason J Kwon, Behnoush Hajian, Yuemin Bian, et al.
Neurogastroenterology and Motility|May 22, 2018
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstructionG Ravenscroft, S Pannell, G O'Grady, et al.
Journal of Child Neurology|April 10, 2019
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral PalsyAlastair H MacLennan, Sara Lewis, Andres Moreno-De-Luca, et al.
Molecular Psychiatry|September 18, 2022
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Pageof 43