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

Kym Mina

Showing results (11-20 of 17) with videos related to

Pageof 2
Sort By:
You have reached the last page of results.This site can display upto 17 results.
Pathology|May 3, 2025
Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophyEdwin Kirk, Linda Mundy, Eric Lee, et al.
Annals of Clinical and Translational Neurology|March 11, 2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experienceSarah J Beecroft, Kyle S Yau, Richard J N Allcock, et al.
Orphanet Journal of Rare Diseases|June 12, 2016
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical serviceGareth Baynam, Nicholas Pachter, Fiona McKenzie, et al.
American Journal of Human Genetics|August 6, 2013
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemiaPauline Gaignard, Minal Menezes, Manuel Schiff, et al.
European Journal of Human Genetics : EJHG|June 9, 2017
Genotype and phenotype spectrum of NRAS germline variantsFranziska Altmüller, Christina Lissewski, Debora Bertola, et al.
Orphanet Journal of Rare Diseases|May 5, 2017
Initiating an undiagnosed diseases program in the Western Australian public health systemGareth Baynam, Stephanie Broley, Alicia Bauskis, et al.
Advances in Experimental Medicine and Biology|December 8, 2017
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health FrameworkGareth Baynam, Faye Bowman, Karla Lister, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Pathology|May 3, 2025
Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophyEdwin Kirk, Linda Mundy, Eric Lee, et al.
Annals of Clinical and Translational Neurology|March 11, 2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experienceSarah J Beecroft, Kyle S Yau, Richard J N Allcock, et al.
Orphanet Journal of Rare Diseases|June 12, 2016
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical serviceGareth Baynam, Nicholas Pachter, Fiona McKenzie, et al.
American Journal of Human Genetics|August 6, 2013
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemiaPauline Gaignard, Minal Menezes, Manuel Schiff, et al.
European Journal of Human Genetics : EJHG|June 9, 2017
Genotype and phenotype spectrum of NRAS germline variantsFranziska Altmüller, Christina Lissewski, Debora Bertola, et al.
Orphanet Journal of Rare Diseases|May 5, 2017
Initiating an undiagnosed diseases program in the Western Australian public health systemGareth Baynam, Stephanie Broley, Alicia Bauskis, et al.
Advances in Experimental Medicine and Biology|December 8, 2017
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health FrameworkGareth Baynam, Faye Bowman, Karla Lister, et al.
Pageof 2