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Japanese Journal of Radiology
|
January 23, 2020
Skeletal ciliopathies: a pattern recognition approach
Atsuhiko Handa, Ulrika Voss, Anna Hammarsjö, 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-Up
Hillevi Lindelöf, Eva Horemuzova, Ulrika Voss, et al.
The American Journal of Sports Medicine
|
November 26, 2015
Medial Patellofemoral Ligament Injuries in Children With First-Time Lateral Patellar Dislocations: A Magnetic Resonance Imaging and Arthroscopic Study
Marie Askenberger, Elizabeth A Arendt, Wilhelmina Ekström, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 28, 2017
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
Gabriela Ferraz Leal, Gen Nishimura, Ulrika Voss, et al.
Human Mutation
|
August 7, 2018
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, et al.
European Journal of Human Genetics : EJHG
|
June 11, 2025
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders
Hillevi Lindelöf, Anna Hammarsjö, Ulrika Voss, et al.
NPJ Genomic Medicine
|
February 16, 2022
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
Sen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, et al.
Journal of Human Genetics
|
April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Anna Hammarsjö, Maria Pettersson, David Chitayat, et al.
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Search research articles
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Showing results (1-10 of 8) with videos related to
Sort By:
Page
of 1
Japanese Journal of Radiology
|
January 23, 2020
Skeletal ciliopathies: a pattern recognition approach
Atsuhiko Handa, Ulrika Voss, Anna Hammarsjö, 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-Up
Hillevi Lindelöf, Eva Horemuzova, Ulrika Voss, et al.
The American Journal of Sports Medicine
|
November 26, 2015
Medial Patellofemoral Ligament Injuries in Children With First-Time Lateral Patellar Dislocations: A Magnetic Resonance Imaging and Arthroscopic Study
Marie Askenberger, Elizabeth A Arendt, Wilhelmina Ekström, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 28, 2017
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
Gabriela Ferraz Leal, Gen Nishimura, Ulrika Voss, et al.
Human Mutation
|
August 7, 2018
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, et al.
European Journal of Human Genetics : EJHG
|
June 11, 2025
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders
Hillevi Lindelöf, Anna Hammarsjö, Ulrika Voss, et al.
NPJ Genomic Medicine
|
February 16, 2022
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
Sen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, et al.
Journal of Human Genetics
|
April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Anna Hammarsjö, Maria Pettersson, David Chitayat, et al.
Page
of 1