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

Kathelijn Keymolen

Showing results (41-50 of 61) with videos related to

Pageof 7
Sort By:
Hereditary Cancer in Clinical Practice|August 7, 2019
A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau diseaseAnne-Marie Vanbinst, Carola Brussaard, Evelynn Vergauwen, et al.
Hereditary Cancer in Clinical Practice|January 10, 2018
Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromesEvelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, et al.
Clinical Genetics|January 19, 2025
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian PopulationAude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, et al.
The Journal of Clinical Endocrinology and Metabolism|April 9, 2010
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1Barbara D'haene, Jan Hellemans, Margarita Craen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2013
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factorsPaul Daniel Brady, Barbara Delle Chiaie, Gabrielle Christenhusz, et al.
American Journal of Human Genetics|March 22, 2016
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyChristiane Kuschal, Elena Botta, Donata Orioli, et al.
Human Molecular Genetics|April 27, 2024
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of functionMurat Alpaslan, Elodie Fastré, Sandrine Mestre, et al.
American Journal of Human Genetics|March 5, 2017
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic DystrophyLise Barbé, Stella Lanni, Arturo López-Castel, et al.
Human Genomics|March 1, 2023
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritanceValerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, et al.
Journal of Medical Genetics|October 25, 2023
Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variantsMathilde Gras, Solveig Heide, Boris Keren, et al.
Pageof 7

Showing results (41-50 of 61) with videos related to

Sort By:
Pageof 7
Hereditary Cancer in Clinical Practice|August 7, 2019
A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau diseaseAnne-Marie Vanbinst, Carola Brussaard, Evelynn Vergauwen, et al.
Hereditary Cancer in Clinical Practice|January 10, 2018
Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromesEvelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, et al.
Clinical Genetics|January 19, 2025
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian PopulationAude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, et al.
The Journal of Clinical Endocrinology and Metabolism|April 9, 2010
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1Barbara D'haene, Jan Hellemans, Margarita Craen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2013
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factorsPaul Daniel Brady, Barbara Delle Chiaie, Gabrielle Christenhusz, et al.
American Journal of Human Genetics|March 22, 2016
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyChristiane Kuschal, Elena Botta, Donata Orioli, et al.
Human Molecular Genetics|April 27, 2024
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of functionMurat Alpaslan, Elodie Fastré, Sandrine Mestre, et al.
American Journal of Human Genetics|March 5, 2017
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic DystrophyLise Barbé, Stella Lanni, Arturo López-Castel, et al.
Human Genomics|March 1, 2023
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritanceValerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, et al.
Journal of Medical Genetics|October 25, 2023
Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variantsMathilde Gras, Solveig Heide, Boris Keren, et al.
Pageof 7