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

Yvonne J Vos

Showing results (1-10 of 42) with videos related to

Pageof 5
Sort By:
Human Mutation|December 3, 2009
An updated and upgraded L1CAM mutation databaseYvonne J Vos, Robert M W Hofstra
Pediatric Neurology|November 19, 2002
X-linked hydrocephalus: a novel missense mutation in the L1CAM geneLászló Sztriha, Yvonne J Vos, Edwin Verlind, et al.
American Journal of Medical Genetics. Part A|June 17, 2008
Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2Noël B B Knops, Krista K Bos, Mieke Kerstjens, et al.
Hereditary Cancer in Clinical Practice|August 27, 2009
Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrumRein P Stulp, Johanna C Herkert, Arend Karrenbeld, et al.
JIMD Reports|February 23, 2013
Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL GeneChristiaan P Sentner, Yvonne J Vos, Klary N Niezen-Koning, et al.
Clinical Genetics|July 6, 2022
Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathyLisette Leeuwen, Charlotte M A Lubout, Hessel P Nijenhuis, et al.
American Journal of Medical Genetics. Part A|December 21, 2022
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1Hanna Breet, Yvonne J Vos, Trijnie Dijkhuizen, et al.
World Journal of Gastroenterology|March 8, 2006
First report of a de novo germline mutation in the MLH1 geneRein P Stulp, Yvonne J Vos, Bart Mol, et al.
Epilepsia Open|March 29, 2018
Unusual Course of Lafora DiseaseRodi Zutt, Gea Drost, Yvonne J Vos, et al.
Human Genetics|January 11, 2003
Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?Reetta Kariola, Robyn Otway, Karin E Lönnqvist, et al.
Pageof 5

Showing results (1-10 of 42) with videos related to

Sort By:
Pageof 5
Human Mutation|December 3, 2009
An updated and upgraded L1CAM mutation databaseYvonne J Vos, Robert M W Hofstra
Pediatric Neurology|November 19, 2002
X-linked hydrocephalus: a novel missense mutation in the L1CAM geneLászló Sztriha, Yvonne J Vos, Edwin Verlind, et al.
American Journal of Medical Genetics. Part A|June 17, 2008
Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2Noël B B Knops, Krista K Bos, Mieke Kerstjens, et al.
Hereditary Cancer in Clinical Practice|August 27, 2009
Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrumRein P Stulp, Johanna C Herkert, Arend Karrenbeld, et al.
JIMD Reports|February 23, 2013
Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL GeneChristiaan P Sentner, Yvonne J Vos, Klary N Niezen-Koning, et al.
Clinical Genetics|July 6, 2022
Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathyLisette Leeuwen, Charlotte M A Lubout, Hessel P Nijenhuis, et al.
American Journal of Medical Genetics. Part A|December 21, 2022
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1Hanna Breet, Yvonne J Vos, Trijnie Dijkhuizen, et al.
World Journal of Gastroenterology|March 8, 2006
First report of a de novo germline mutation in the MLH1 geneRein P Stulp, Yvonne J Vos, Bart Mol, et al.
Epilepsia Open|March 29, 2018
Unusual Course of Lafora DiseaseRodi Zutt, Gea Drost, Yvonne J Vos, et al.
Human Genetics|January 11, 2003
Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?Reetta Kariola, Robyn Otway, Karin E Lönnqvist, et al.
Pageof 5