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

Anna Walczak

Showing results (61-70 of 65) with videos related to

Pageof 7
Sort By:
You have reached the last page of results.This site can display upto 65 results.
Human Molecular Genetics|August 21, 2018
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexiaRobert Smigiel, Diane L Sherman, Malgorzata Rydzanicz, et al.
Journal of Medical Genetics|October 25, 2018
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to <i>EFNA5</i>, <i>BAHD1</i> and <i>PPP2R5E</i> as novel candidates for genes causing human Mendelian disordersVictor Murcia Pienkowski, Marzena Kucharczyk, Marlena Młynek, et al.
Journal of Clinical Medicine|July 17, 2020
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care UnitRobert Śmigiel, Mateusz Biela, Krzysztof Szmyd, et al.
Journal of Medical Genetics|March 3, 2018
Dominant <i>ELOVL1</i> mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic featuresAnna Kutkowska-Kaźmierczak, Małgorzata Rydzanicz, Aleksander Chlebowski, et al.
Human Mutation|January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial diseaseFrancesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.
Pageof 7

Showing results (61-70 of 65) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 65 results.
Human Molecular Genetics|August 21, 2018
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexiaRobert Smigiel, Diane L Sherman, Malgorzata Rydzanicz, et al.
Journal of Medical Genetics|October 25, 2018
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to <i>EFNA5</i>, <i>BAHD1</i> and <i>PPP2R5E</i> as novel candidates for genes causing human Mendelian disordersVictor Murcia Pienkowski, Marzena Kucharczyk, Marlena Młynek, et al.
Journal of Clinical Medicine|July 17, 2020
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care UnitRobert Śmigiel, Mateusz Biela, Krzysztof Szmyd, et al.
Journal of Medical Genetics|March 3, 2018
Dominant <i>ELOVL1</i> mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic featuresAnna Kutkowska-Kaźmierczak, Małgorzata Rydzanicz, Aleksander Chlebowski, et al.
Human Mutation|January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial diseaseFrancesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.
Pageof 7