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 Hammarsjö

Showing results (1-10 of 37) with videos related to

Pageof 4
Sort By:
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 8, 2018
Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural InformationEmma Tham, Gintautas Grigelionis, Anna Hammarsjö, et al.
Japanese Journal of Radiology|January 23, 2020
Skeletal ciliopathies: a pattern recognition approachAtsuhiko Handa, Ulrika Voss, Anna Hammarsjö, et al.
Frontiers in Pediatrics|January 27, 2023
Case Report: Whole genome sequencing identifies <i>CCDC88C</i> as a novel <i>JAK2</i> fusion partner in pediatric T-cell acute lymphoblastic leukemiaAleksandra Krstic, Fatemah Rezayee, Leonie Saft, et al.
Frontiers in Endocrinology|June 30, 2022
Case Report: Inversion of <i>LMX1B</i> - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-UpHillevi Lindelöf, Eva Horemuzova, Ulrika Voss, et al.
Clinical Genetics|February 19, 2025
Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) HaploinsufficiencyElin Stavrén-Eriksson, Anna Hammarsjö, Anna Lindstrand, et al.
Clinical Genetics|August 24, 2023
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndromeDominyka Batkovskyte, Maya Komatsu, Anna Hammarsjö, et al.
Scientific Reports|April 27, 2023
The cost-effectiveness of whole genome sequencing in neurodevelopmental disordersHannes Runheim, Maria Pettersson, Anna Hammarsjö, et al.
Brain Communications|August 24, 2023
Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohortSintia Kolbjer, Daniel A Martín Muñoz, Anne K Örtqvist, et al.
European Journal of Medical Genetics|January 5, 2010
22q11.2 microduplication in two patients with bladder exstrophy and hearing impairmentJohanna Lundin, Cilla Söderhäll, Lina Lundén, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type StanescuAnna Hammarsjö, Ann Nordgren, Kristina Lagerstedt-Robinson, et al.
Pageof 4

Showing results (1-10 of 37) with videos related to

Sort By:
Pageof 4
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 8, 2018
Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural InformationEmma Tham, Gintautas Grigelionis, Anna Hammarsjö, et al.
Japanese Journal of Radiology|January 23, 2020
Skeletal ciliopathies: a pattern recognition approachAtsuhiko Handa, Ulrika Voss, Anna Hammarsjö, et al.
Frontiers in Pediatrics|January 27, 2023
Case Report: Whole genome sequencing identifies <i>CCDC88C</i> as a novel <i>JAK2</i> fusion partner in pediatric T-cell acute lymphoblastic leukemiaAleksandra Krstic, Fatemah Rezayee, Leonie Saft, et al.
Frontiers in Endocrinology|June 30, 2022
Case Report: Inversion of <i>LMX1B</i> - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-UpHillevi Lindelöf, Eva Horemuzova, Ulrika Voss, et al.
Clinical Genetics|February 19, 2025
Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) HaploinsufficiencyElin Stavrén-Eriksson, Anna Hammarsjö, Anna Lindstrand, et al.
Clinical Genetics|August 24, 2023
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndromeDominyka Batkovskyte, Maya Komatsu, Anna Hammarsjö, et al.
Scientific Reports|April 27, 2023
The cost-effectiveness of whole genome sequencing in neurodevelopmental disordersHannes Runheim, Maria Pettersson, Anna Hammarsjö, et al.
Brain Communications|August 24, 2023
Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohortSintia Kolbjer, Daniel A Martín Muñoz, Anne K Örtqvist, et al.
European Journal of Medical Genetics|January 5, 2010
22q11.2 microduplication in two patients with bladder exstrophy and hearing impairmentJohanna Lundin, Cilla Söderhäll, Lina Lundén, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type StanescuAnna Hammarsjö, Ann Nordgren, Kristina Lagerstedt-Robinson, et al.
Pageof 4