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

Odile Boute

Showing results (51-60 of 75) with videos related to

Pageof 8
Sort By:
Human Mutation|January 29, 2014
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patientsDaphné Lehalle, Christopher T Gordon, Myriam Oufadem, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 23, 2013
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literatureEdouard Cottereau, Isabelle Mortemousque, Marie-Pierre Moizard, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
Prenatal Diagnosis|August 13, 2024
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disordersChristel Thauvin-Robinet, Aurore Garde, Julian Delanne, et al.
American Journal of Human Genetics|December 1, 2014
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndromeDagmar Wieczorek, William G Newman, Thomas Wieland, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Journal of Medical Genetics|October 6, 2018
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlationsLaïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, et al.
Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
European Journal of Human Genetics : EJHG|April 4, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem featuresChristel Thauvin-Robinet, Aurore Garde, Maud Favier, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutationsFlorence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.
Pageof 8

Showing results (51-60 of 75) with videos related to

Sort By:
Pageof 8
Human Mutation|January 29, 2014
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patientsDaphné Lehalle, Christopher T Gordon, Myriam Oufadem, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 23, 2013
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literatureEdouard Cottereau, Isabelle Mortemousque, Marie-Pierre Moizard, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
Prenatal Diagnosis|August 13, 2024
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disordersChristel Thauvin-Robinet, Aurore Garde, Julian Delanne, et al.
American Journal of Human Genetics|December 1, 2014
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndromeDagmar Wieczorek, William G Newman, Thomas Wieland, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Journal of Medical Genetics|October 6, 2018
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlationsLaïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, et al.
Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
European Journal of Human Genetics : EJHG|April 4, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem featuresChristel Thauvin-Robinet, Aurore Garde, Maud Favier, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutationsFlorence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.
Pageof 8