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

Emma Clement

Showing results (21-30 of 38) with videos related to

Pageof 4
Sort By:
Science Signaling|July 7, 2016
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalitiesRubén J Lopez, Susan Byrne, Mirko Vukcevic, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem DiseaseSaskia B Wortmann, Brigitte Meunier, Lamia Mestek-Boukhibar, et al.
Journal of Medical Genetics|July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenLamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
Brain Pathology (Zurich, Switzerland)|August 12, 2008
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityCecilia Jimenez-Mallebrera, Silvia Torelli, Lucy Feng, et al.
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.
Neuromuscular Disorders : NMD|March 9, 2010
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutationsFatemeh Geranmayeh, Emma Clement, Lucy H Feng, et al.
Brain : a Journal of Neurology|September 20, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanCaroline Godfrey, Emma Clement, Rachael Mein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
EMBO Molecular Medicine|December 19, 2025
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delaySøren H Hough, Satpal S Jhujh, Samah W Awwad, et al.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
Science Signaling|July 7, 2016
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalitiesRubén J Lopez, Susan Byrne, Mirko Vukcevic, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem DiseaseSaskia B Wortmann, Brigitte Meunier, Lamia Mestek-Boukhibar, et al.
Journal of Medical Genetics|July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenLamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
Brain Pathology (Zurich, Switzerland)|August 12, 2008
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityCecilia Jimenez-Mallebrera, Silvia Torelli, Lucy Feng, et al.
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.
Neuromuscular Disorders : NMD|March 9, 2010
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutationsFatemeh Geranmayeh, Emma Clement, Lucy H Feng, et al.
Brain : a Journal of Neurology|September 20, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanCaroline Godfrey, Emma Clement, Rachael Mein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
EMBO Molecular Medicine|December 19, 2025
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delaySøren H Hough, Satpal S Jhujh, Samah W Awwad, et al.
Pageof 4