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

Gabriele Richard

Showing results (31-40 of 83) with videos related to

Pageof 9
Sort By:
Genetic Testing and Molecular Biomarkers|May 2, 2013
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratoryKrystien V Lieve, Leah Williams, Amy Daly, et al.
Human Mutation|April 27, 2022
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratodermaDouglas Ralph, Michael A Levine, Gabriele Richard, et al.
European Journal of Dermatology : EJD|March 11, 2005
Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasiaRichard Kellermayer, Matthew Keller, Paulina Ratajczak, et al.
The Journal of Investigative Dermatology|November 26, 2002
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophyMargarita Indelman, Reuven Bergman, Raziel Lurie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2017
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disordersMary Beth Stosser, Amanda S Lindy, Elizabeth Butler, et al.
Molecular Biology of the Cell|October 28, 2011
The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndromeGulistan Mese, Caterina Sellitto, Leping Li, et al.
American Journal of Medical Genetics. Part A|November 15, 2006
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?Mette Warburg, Susanne Ullman, Hanne Jensen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 21, 2017
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal developmentCarin L Yates, Kristin G Monaghan, Deborah Copenheaver, et al.
The Journal of Investigative Dermatology|September 17, 2002
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genesEli Sprecher, Peter Itin, Neil V Whittock, et al.
Epilepsia|April 15, 2018
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disordersAmanda S Lindy, Mary Beth Stosser, Elizabeth Butler, et al.
Pageof 9

Showing results (31-40 of 83) with videos related to

Sort By:
Pageof 9
Genetic Testing and Molecular Biomarkers|May 2, 2013
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratoryKrystien V Lieve, Leah Williams, Amy Daly, et al.
Human Mutation|April 27, 2022
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratodermaDouglas Ralph, Michael A Levine, Gabriele Richard, et al.
European Journal of Dermatology : EJD|March 11, 2005
Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasiaRichard Kellermayer, Matthew Keller, Paulina Ratajczak, et al.
The Journal of Investigative Dermatology|November 26, 2002
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophyMargarita Indelman, Reuven Bergman, Raziel Lurie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2017
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disordersMary Beth Stosser, Amanda S Lindy, Elizabeth Butler, et al.
Molecular Biology of the Cell|October 28, 2011
The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndromeGulistan Mese, Caterina Sellitto, Leping Li, et al.
American Journal of Medical Genetics. Part A|November 15, 2006
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?Mette Warburg, Susanne Ullman, Hanne Jensen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 21, 2017
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal developmentCarin L Yates, Kristin G Monaghan, Deborah Copenheaver, et al.
The Journal of Investigative Dermatology|September 17, 2002
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genesEli Sprecher, Peter Itin, Neil V Whittock, et al.
Epilepsia|April 15, 2018
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disordersAmanda S Lindy, Mary Beth Stosser, Elizabeth Butler, et al.
Pageof 9