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

Solaf M Elsayed

Showing results (21-30 of 25) with videos related to

Pageof 3
Sort By:
You have reached the last page of results.This site can display upto 25 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2015
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for careBrian T Wilson, Zornitza Stark, Ruth E Sutton, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and <i>PEX26</i> mutated in Heimler syndromeChristine Neuhaus, Tobias Eisenberger, Christian Decker, et al.
American Journal of Medical Genetics. Part A|January 18, 2024
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4Gulcin Akinci, Saif Alyaarubi, Nivedita Patni, et al.
American Journal of Human Genetics|July 5, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and CraniosynostosisAimee L Fenwick, Maciej Kliszczak, Fay Cooper, et al.
European Journal of Human Genetics : EJHG|May 25, 2022
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patientsLigia S Almeida, Catarina Pereira, Ruxandra Aanicai, et al.
Pageof 3

Showing results (21-30 of 25) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 25 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2015
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for careBrian T Wilson, Zornitza Stark, Ruth E Sutton, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and <i>PEX26</i> mutated in Heimler syndromeChristine Neuhaus, Tobias Eisenberger, Christian Decker, et al.
American Journal of Medical Genetics. Part A|January 18, 2024
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4Gulcin Akinci, Saif Alyaarubi, Nivedita Patni, et al.
American Journal of Human Genetics|July 5, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and CraniosynostosisAimee L Fenwick, Maciej Kliszczak, Fay Cooper, et al.
European Journal of Human Genetics : EJHG|May 25, 2022
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patientsLigia S Almeida, Catarina Pereira, Ruxandra Aanicai, et al.
Pageof 3