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

Ana Topf

Showing results (21-30 of 32) with videos related to

Pageof 4
Sort By:
Plos One|March 25, 2009
Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformationHelen R Griffin, Darroch H Hall, Ana Topf, et al.
Journal of Medical Genetics|June 28, 2019
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domainRichard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseasesBerta Estévez-Arias, Leslie Matalonga, Delia Yubero, et al.
Human Molecular Genetics|December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controlsRachel Soemedi, Ana Topf, Ian J Wilson, et al.
Journal of Neurology|June 7, 2025
Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelinesPietro Riguzzi, Holly Borland, Meredith K James, et al.
American Journal of Human Genetics|August 30, 2016
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic ApneaStéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, et al.
Circulation Research|December 25, 2018
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotDonna J Page, Matthieu J Miossec, Simon G Williams, et al.
Journal of Inherited Metabolic Disease|July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutationsNadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Nature Genetics|May 28, 2013
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16Heather J Cordell, Jamie Bentham, Ana Topf, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
Plos One|March 25, 2009
Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformationHelen R Griffin, Darroch H Hall, Ana Topf, et al.
Journal of Medical Genetics|June 28, 2019
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domainRichard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseasesBerta Estévez-Arias, Leslie Matalonga, Delia Yubero, et al.
Human Molecular Genetics|December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controlsRachel Soemedi, Ana Topf, Ian J Wilson, et al.
Journal of Neurology|June 7, 2025
Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelinesPietro Riguzzi, Holly Borland, Meredith K James, et al.
American Journal of Human Genetics|August 30, 2016
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic ApneaStéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, et al.
Circulation Research|December 25, 2018
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotDonna J Page, Matthieu J Miossec, Simon G Williams, et al.
Journal of Inherited Metabolic Disease|July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutationsNadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Nature Genetics|May 28, 2013
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16Heather J Cordell, Jamie Bentham, Ana Topf, et al.
Pageof 4