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

Laure Raymond

Showing results (21-30 of 46) with videos related to

Pageof 5
Sort By:
Dermatitis : Contact, Atopic, Occupational, Drug|March 14, 2023
Germline Mosaicism in <i>STAT3</i>: A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE SyndromeQuentin Sabbagh, Jean-David Cohen, Jérémie Mortreux, et al.
Kidney International Reports|August 19, 2024
Corrigendum to "Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease" [<i>Kidney International Reports</i> Volume 7, Issue 4, April 2022, Pages 916-919]Emmanuel Letavernier, Madeline Schwoehrer, Marine Livrozet, et al.
Kidney International Reports|October 18, 2023
Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic AnalysisThomas Robert, Sophie Greillier, Julia Torrents, et al.
European Journal of Human Genetics : EJHG|August 24, 2017
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegiasSara Morais, Laure Raymond, Mathilde Mairey, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|October 16, 2023
Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac PhenotypeSofiane Salhi, Alice Doreille, Marine Serveaux Dancer, et al.
Radiation Research|August 1, 2008
Cell membrane is a more sensitive target than cytoplasm to dense ionization produced by auger electronsJean-Pierre Pouget, Lore Santoro, Laure Raymond, et al.
Clinical Journal of the American Society of Nephrology : CJASN|December 3, 2020
Nephronophthisis in Young Adults Phenocopying Thrombotic Microangiopathy and Severe NephrosclerosisAlice Doreille, Laure Raymond, Anne-Sophie Lebre, et al.
Gene|October 16, 2012
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutationsLaure Raymond, Bertrand Diebold, Céline Leroux, et al.
Journal of Medical Genetics|December 10, 2013
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunctionTalya Dor, Yuval Cinnamon, Laure Raymond, et al.
American Journal of Human Genetics|February 16, 2022
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermiaZine-Eddine Kherraf, Caroline Cazin, Amine Bouker, et al.
Pageof 5

Showing results (21-30 of 46) with videos related to

Sort By:
Pageof 5
Dermatitis : Contact, Atopic, Occupational, Drug|March 14, 2023
Germline Mosaicism in <i>STAT3</i>: A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE SyndromeQuentin Sabbagh, Jean-David Cohen, Jérémie Mortreux, et al.
Kidney International Reports|August 19, 2024
Corrigendum to "Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease" [<i>Kidney International Reports</i> Volume 7, Issue 4, April 2022, Pages 916-919]Emmanuel Letavernier, Madeline Schwoehrer, Marine Livrozet, et al.
Kidney International Reports|October 18, 2023
Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic AnalysisThomas Robert, Sophie Greillier, Julia Torrents, et al.
European Journal of Human Genetics : EJHG|August 24, 2017
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegiasSara Morais, Laure Raymond, Mathilde Mairey, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|October 16, 2023
Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac PhenotypeSofiane Salhi, Alice Doreille, Marine Serveaux Dancer, et al.
Radiation Research|August 1, 2008
Cell membrane is a more sensitive target than cytoplasm to dense ionization produced by auger electronsJean-Pierre Pouget, Lore Santoro, Laure Raymond, et al.
Clinical Journal of the American Society of Nephrology : CJASN|December 3, 2020
Nephronophthisis in Young Adults Phenocopying Thrombotic Microangiopathy and Severe NephrosclerosisAlice Doreille, Laure Raymond, Anne-Sophie Lebre, et al.
Gene|October 16, 2012
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutationsLaure Raymond, Bertrand Diebold, Céline Leroux, et al.
Journal of Medical Genetics|December 10, 2013
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunctionTalya Dor, Yuval Cinnamon, Laure Raymond, et al.
American Journal of Human Genetics|February 16, 2022
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermiaZine-Eddine Kherraf, Caroline Cazin, Amine Bouker, et al.
Pageof 5