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

Idit Maya

Showing results (61-70 of 67) with videos related to

Pageof 7
Sort By:
You have reached the last page of results.This site can display upto 67 results.
American Journal of Human Genetics|July 28, 2009
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeLina Basel-Vanagaite, Ofer Sarig, Dov Hershkovitz, et al.
Human Genetics|March 21, 2015
Homozygous MED25 mutation implicated in eye-intellectual disability syndromeLina Basel-Vanagaite, Pola Smirin-Yosef, Jenna Lee Essakow, et al.
American Journal of Human Genetics|November 2, 2010
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic systemEfrat Birk, Adi Har-Zahav, Chiara M Manzini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2020
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care centerRachel Michaelson-Cohen, Liat Salzer-Sheelo, Rivka Sukenik-Halevy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2017
Noncoding copy-number variations are associated with congenital limb malformationRicarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, et al.
Human Molecular Genetics|May 27, 2025
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndromeAmber S E van Oirsouw, Michael A Hadders, Martijn Koetsier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signatureRichard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, et al.
Pageof 7

Showing results (61-70 of 67) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 67 results.
American Journal of Human Genetics|July 28, 2009
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeLina Basel-Vanagaite, Ofer Sarig, Dov Hershkovitz, et al.
Human Genetics|March 21, 2015
Homozygous MED25 mutation implicated in eye-intellectual disability syndromeLina Basel-Vanagaite, Pola Smirin-Yosef, Jenna Lee Essakow, et al.
American Journal of Human Genetics|November 2, 2010
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic systemEfrat Birk, Adi Har-Zahav, Chiara M Manzini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2020
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care centerRachel Michaelson-Cohen, Liat Salzer-Sheelo, Rivka Sukenik-Halevy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2017
Noncoding copy-number variations are associated with congenital limb malformationRicarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, et al.
Human Molecular Genetics|May 27, 2025
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndromeAmber S E van Oirsouw, Michael A Hadders, Martijn Koetsier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signatureRichard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, et al.
Pageof 7