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

Fernando Scaglia

Showing results (141-150 of 190) with videos related to

Pageof 19
Sort By:
Human Genetics|June 27, 2009
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mappingAyman W El-Hattab, Teresa A Smolarek, Martha E Walker, et al.
Molecular Genetics and Metabolism|August 13, 2013
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) geneSirisak Chanprasert, Jing Wang, Shao-Wen Weng, et al.
Neurology. Genetics|December 25, 2019
<i>GNA11</i> brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularisJoseph M Sliepka, Sarah C McGriff, Linda Z Rossetti, et al.
Molecular Genetics and Metabolism|June 18, 2016
Solid organ transplantation in primary mitochondrial disease: Proceed with cautionSumit Parikh, Amel Karaa, Amy Goldstein, et al.
European Journal of Human Genetics : EJHG|December 15, 2010
Phenotypic manifestations of copy number variation in chromosome 16p13.11Sandesh C Sreenath Nagamani, Ayelet Erez, Patricia Bader, et al.
American Journal of Human Genetics|December 31, 2005
Epimerase-deficiency galactosemia is not a binary conditionKimberly K Openo, Jenny M Schulz, Claudia A Vargas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Cell Metabolism|February 6, 2007
Ménage-à-trois 1 is critical for the transcriptional function of PPARgamma coactivator 1Motoaki Sano, Yasukatsu Izumi, Katja Helenius, et al.
American Journal of Medical Genetics. Part A|December 20, 2022
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathyShuk Ching Chong, Ye Cao, Eva L W Fung, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testingJoanna Wiszniewska, Weimin Bi, Chad Shaw, et al.
Pageof 19

Showing results (141-150 of 190) with videos related to

Sort By:
Pageof 19
Human Genetics|June 27, 2009
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mappingAyman W El-Hattab, Teresa A Smolarek, Martha E Walker, et al.
Molecular Genetics and Metabolism|August 13, 2013
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) geneSirisak Chanprasert, Jing Wang, Shao-Wen Weng, et al.
Neurology. Genetics|December 25, 2019
<i>GNA11</i> brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularisJoseph M Sliepka, Sarah C McGriff, Linda Z Rossetti, et al.
Molecular Genetics and Metabolism|June 18, 2016
Solid organ transplantation in primary mitochondrial disease: Proceed with cautionSumit Parikh, Amel Karaa, Amy Goldstein, et al.
European Journal of Human Genetics : EJHG|December 15, 2010
Phenotypic manifestations of copy number variation in chromosome 16p13.11Sandesh C Sreenath Nagamani, Ayelet Erez, Patricia Bader, et al.
American Journal of Human Genetics|December 31, 2005
Epimerase-deficiency galactosemia is not a binary conditionKimberly K Openo, Jenny M Schulz, Claudia A Vargas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Cell Metabolism|February 6, 2007
Ménage-à-trois 1 is critical for the transcriptional function of PPARgamma coactivator 1Motoaki Sano, Yasukatsu Izumi, Katja Helenius, et al.
American Journal of Medical Genetics. Part A|December 20, 2022
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathyShuk Ching Chong, Ye Cao, Eva L W Fung, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testingJoanna Wiszniewska, Weimin Bi, Chad Shaw, et al.
Pageof 19