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

Evgenia Sklirou

Showing results (1-10 of 7) with videos related to

Pageof 1
Sort By:
The American Journal of Medicine|February 6, 2007
A word on chillsPetros Kopterides, Evgenia Sklirou
Pediatric Clinics of North America|March 6, 2018
Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and CreatineEvgenia Sklirou, Uta Lichter-Konecki
Clinical Pediatrics|June 3, 2009
A girl with bilateral temporomandibular joint pain, generalized arthralgias, and inability to walkEvgenia Sklirou, Mersini Mavrikou, Konstantinos A Voudris, et al.
Molecular Genetics & Genomic Medicine|October 8, 2020
Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndromeJustin L Kandler, Evgenia Sklirou, Audrey Woerner, et al.
Frontiers in Genetics|February 15, 2021
Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation DisordersEvgenia Sklirou, Ahmad N Alodaib, Steven F Dobrowolski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2021
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to painFelix Marbach, Georgi Stoyanov, Florian Erger, et al.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
The American Journal of Medicine|February 6, 2007
A word on chillsPetros Kopterides, Evgenia Sklirou
Pediatric Clinics of North America|March 6, 2018
Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and CreatineEvgenia Sklirou, Uta Lichter-Konecki
Clinical Pediatrics|June 3, 2009
A girl with bilateral temporomandibular joint pain, generalized arthralgias, and inability to walkEvgenia Sklirou, Mersini Mavrikou, Konstantinos A Voudris, et al.
Molecular Genetics & Genomic Medicine|October 8, 2020
Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndromeJustin L Kandler, Evgenia Sklirou, Audrey Woerner, et al.
Frontiers in Genetics|February 15, 2021
Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation DisordersEvgenia Sklirou, Ahmad N Alodaib, Steven F Dobrowolski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2021
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to painFelix Marbach, Georgi Stoyanov, Florian Erger, et al.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
Pageof 1