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

Zornitza Stark

Showing results (171-180 of 240) with videos related to

Pageof 24
Sort By:
European Journal of Human Genetics : EJHG|April 17, 2014
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndromeDorien Schepers, Alexander J Doyle, Gretchen Oswald, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 1, 2026
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn SequencingLilian Downie, Julie Yeo, Thomas Minten, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophyKarina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2016
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersZornitza Stark, Tiong Y Tan, Belinda Chong, et al.
Brain : a Journal of Neurology|June 22, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disabilityEmil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, et al.
BMC Nephrology|February 3, 2025
Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocolAmali Mallawaarachchi, Hugh McCarthy, Thomas A Forbes, et al.
Human Molecular Genetics|February 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial diseaseRichard G Lee, Shanti Balasubramaniam, Maike Stentenbach, et al.
Journal of Medical Genetics|November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, et al.
Brain : a Journal of Neurology|August 15, 2018
SYT1-associated neurodevelopmental disorder: a case seriesKate Baker, Sarah L Gordon, Holly Melland, et al.
Human Genomics|August 17, 2024
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023Amali Mallawaarachchi, Erik Biros, Trudie Harris, et al.
Pageof 24

Showing results (171-180 of 240) with videos related to

Sort By:
Pageof 24
European Journal of Human Genetics : EJHG|April 17, 2014
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndromeDorien Schepers, Alexander J Doyle, Gretchen Oswald, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 1, 2026
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn SequencingLilian Downie, Julie Yeo, Thomas Minten, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophyKarina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2016
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersZornitza Stark, Tiong Y Tan, Belinda Chong, et al.
Brain : a Journal of Neurology|June 22, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disabilityEmil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, et al.
BMC Nephrology|February 3, 2025
Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocolAmali Mallawaarachchi, Hugh McCarthy, Thomas A Forbes, et al.
Human Molecular Genetics|February 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial diseaseRichard G Lee, Shanti Balasubramaniam, Maike Stentenbach, et al.
Journal of Medical Genetics|November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, et al.
Brain : a Journal of Neurology|August 15, 2018
SYT1-associated neurodevelopmental disorder: a case seriesKate Baker, Sarah L Gordon, Holly Melland, et al.
Human Genomics|August 17, 2024
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023Amali Mallawaarachchi, Erik Biros, Trudie Harris, et al.
Pageof 24