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

Elke de Boer

Showing results (11-20 of 30) with videos related to

Pageof 3
Sort By:
European Journal of Human Genetics : EJHG|October 18, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samplesRobin Wijngaard, German Demidov, Luke O'Gorman, et al.
European Journal of Human Genetics : EJHG|November 17, 2023
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samplesRobin Wijngaard, German Demidov, Luke O'Gorman, et al.
American Journal of Human Genetics|October 9, 2021
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMarialetizia Motta, Giulia Fasano, Sina Gredy, et al.
Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2024
Natural history of adults with KBG syndrome: A physician-reported experienceAllan Bayat, Hannah Grimes, Elke de Boer, et al.
European Journal of Human Genetics : EJHG|April 2, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
Nature Genetics|August 7, 2023
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning frameworkAlexander J M Dingemans, Max Hinne, Kim M G Truijen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2023
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencingAnne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2022
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinElke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
European Journal of Human Genetics : EJHG|October 18, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samplesRobin Wijngaard, German Demidov, Luke O'Gorman, et al.
European Journal of Human Genetics : EJHG|November 17, 2023
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samplesRobin Wijngaard, German Demidov, Luke O'Gorman, et al.
American Journal of Human Genetics|October 9, 2021
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMarialetizia Motta, Giulia Fasano, Sina Gredy, et al.
Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2024
Natural history of adults with KBG syndrome: A physician-reported experienceAllan Bayat, Hannah Grimes, Elke de Boer, et al.
European Journal of Human Genetics : EJHG|April 2, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
Nature Genetics|August 7, 2023
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning frameworkAlexander J M Dingemans, Max Hinne, Kim M G Truijen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2023
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencingAnne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2022
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinElke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, et al.
Pageof 3