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

Else Merckoll

Showing results (11-20 of 19) with videos related to

Pageof 2
Sort By:
You have reached the last page of results.This site can display upto 19 results.
Acta Orthopaedica|January 12, 2022
A comparison of 3 different methods for assessment of skeletal age when treating leg-length discrepancies: an inter- and intra-observer studyAnne Berg Breen, Harald Steen, Are Pripp, et al.
Molecular Genetics & Genomic Medicine|June 11, 2024
A monoallelic UXS1 variant associated with short-limbed short statureCecilie F Rustad, Paul Hoff Backe, Chunsheng Jin, et al.
Cell Calcium|December 1, 2019
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular boneThilini H Gamage, Emma Lengle, Gjermund Gunnes, et al.
Human Molecular Genetics|July 30, 2015
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoformTuva Barøy, Janet Koster, Petter Strømme, et al.
NPJ Genomic Medicine|November 22, 2023
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, et al.
Plos One|March 15, 2016
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZheng Wang, Aritoshi Iida, Noriko Miyake, et al.
American Journal of Medical Genetics. Part A|July 18, 2019
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new casesLucy Bownass, Stephen Abbs, Ruth Armstrong, et al.
American Journal of Human Genetics|June 17, 2014
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasiaAsbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, et al.
American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Acta Orthopaedica|January 12, 2022
A comparison of 3 different methods for assessment of skeletal age when treating leg-length discrepancies: an inter- and intra-observer studyAnne Berg Breen, Harald Steen, Are Pripp, et al.
Molecular Genetics & Genomic Medicine|June 11, 2024
A monoallelic UXS1 variant associated with short-limbed short statureCecilie F Rustad, Paul Hoff Backe, Chunsheng Jin, et al.
Cell Calcium|December 1, 2019
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular boneThilini H Gamage, Emma Lengle, Gjermund Gunnes, et al.
Human Molecular Genetics|July 30, 2015
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoformTuva Barøy, Janet Koster, Petter Strømme, et al.
NPJ Genomic Medicine|November 22, 2023
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, et al.
Plos One|March 15, 2016
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZheng Wang, Aritoshi Iida, Noriko Miyake, et al.
American Journal of Medical Genetics. Part A|July 18, 2019
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new casesLucy Bownass, Stephen Abbs, Ruth Armstrong, et al.
American Journal of Human Genetics|June 17, 2014
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasiaAsbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, et al.
American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.
Pageof 2