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Geert Mortier

Showing results (51-60 of 156) with videos related to

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Bone|May 11, 2020
A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosisRaphaël De Ridder, Eveline Boudin, M Carola Zillikens, et al.
Prenatal Diagnosis|June 14, 2016
Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal testKatrien Janssens, Kathleen Deiteren, Anke Verlinden, et al.
European Journal of Human Genetics : EJHG|April 21, 2011
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletionsSarah Vergult, Danijela Krgovic, Bart Loeys, et al.
Human Mutation|November 30, 2018
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial functionKatta M Girisha, Leonie von Elsner, Kausthubham Neethukrishna, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 12, 2016
A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human BoneIgor Fijalkowski, Ellen Geets, Ellen Steenackers, et al.
Bone|February 6, 2026
Practical guidance for clinicians to optimise orthopaedic outcomes in achondroplasia: International achondroplasia forum guiding principlesPhilip Kunkel, Carmen Vleggeert-Lankamp, Simone Riganti, et al.
Journal of Hypertension|June 14, 2008
High prevalence of SDHB mutations in head and neck paraganglioma in BelgiumAlexandre Persu, Marc Hamoir, Vincent Grégoire, et al.
European Journal of Pediatrics|April 28, 2006
Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOSPiet Vanhaesebrouck, Kris De Coen, Paul Defoort, et al.
Calcified Tissue International|December 5, 2023
An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone RemodelingGretl Hendrickx, Eveline Boudin, Ligia Mateiu, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterizationBertrand Isidor, Loïc Geffroy, Benoît de Courtivron, et al.
Pageof 16

Showing results (51-60 of 156) with videos related to

Sort By:
Pageof 16
Bone|May 11, 2020
A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosisRaphaël De Ridder, Eveline Boudin, M Carola Zillikens, et al.
Prenatal Diagnosis|June 14, 2016
Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal testKatrien Janssens, Kathleen Deiteren, Anke Verlinden, et al.
European Journal of Human Genetics : EJHG|April 21, 2011
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletionsSarah Vergult, Danijela Krgovic, Bart Loeys, et al.
Human Mutation|November 30, 2018
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial functionKatta M Girisha, Leonie von Elsner, Kausthubham Neethukrishna, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 12, 2016
A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human BoneIgor Fijalkowski, Ellen Geets, Ellen Steenackers, et al.
Bone|February 6, 2026
Practical guidance for clinicians to optimise orthopaedic outcomes in achondroplasia: International achondroplasia forum guiding principlesPhilip Kunkel, Carmen Vleggeert-Lankamp, Simone Riganti, et al.
Journal of Hypertension|June 14, 2008
High prevalence of SDHB mutations in head and neck paraganglioma in BelgiumAlexandre Persu, Marc Hamoir, Vincent Grégoire, et al.
European Journal of Pediatrics|April 28, 2006
Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOSPiet Vanhaesebrouck, Kris De Coen, Paul Defoort, et al.
Calcified Tissue International|December 5, 2023
An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone RemodelingGretl Hendrickx, Eveline Boudin, Ligia Mateiu, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterizationBertrand Isidor, Loïc Geffroy, Benoît de Courtivron, et al.
Pageof 16