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

Hannah Verdin

Showing results (21-30 of 36) with videos related to

Pageof 4
Sort By:
Ebiomedicine|June 27, 2022
Endocrine outcome and seminal parameters in young adult men born with hypospadias: A cross-sectional cohort studyLloyd J W Tack, Anne-Françoise Spinoit, Piet Hoebeke, et al.
Investigative Ophthalmology & Visual Science|February 14, 2015
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile NystagmusBasamat AlMoallem, Miriam Bauwens, Sophie Walraedt, et al.
Scientific Reports|January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, et al.
Orphanet Journal of Rare Diseases|May 23, 2022
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, et al.
Neurology. Genetics|May 8, 2023
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic DisordersNika Schuermans, Hannah Verdin, Jody Ghijsels, et al.
European Journal of Endocrinology|December 21, 2023
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional studyMartine Cools, Celien Grijp, Jana Neirinck, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex developmentDorien Baetens, Tülay Güran, Berenice B Mendonca, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2018
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
Human Mutation|May 8, 2026
Variant Curation of the Largest Compendium of <i>FOXL2</i> Coding and Noncoding Sequence and Structural Variants in BPESCharlotte Matton, Julie Van De Velde, Marieke De Bruyne, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
Ebiomedicine|June 27, 2022
Endocrine outcome and seminal parameters in young adult men born with hypospadias: A cross-sectional cohort studyLloyd J W Tack, Anne-Françoise Spinoit, Piet Hoebeke, et al.
Investigative Ophthalmology & Visual Science|February 14, 2015
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile NystagmusBasamat AlMoallem, Miriam Bauwens, Sophie Walraedt, et al.
Scientific Reports|January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, et al.
Orphanet Journal of Rare Diseases|May 23, 2022
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, et al.
Neurology. Genetics|May 8, 2023
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic DisordersNika Schuermans, Hannah Verdin, Jody Ghijsels, et al.
European Journal of Endocrinology|December 21, 2023
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional studyMartine Cools, Celien Grijp, Jana Neirinck, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex developmentDorien Baetens, Tülay Güran, Berenice B Mendonca, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2018
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
Human Mutation|May 8, 2026
Variant Curation of the Largest Compendium of <i>FOXL2</i> Coding and Noncoding Sequence and Structural Variants in BPESCharlotte Matton, Julie Van De Velde, Marieke De Bruyne, et al.
Pageof 4