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Geert Mortier

Showing results (131-140 of 156) with videos related to

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American Journal of Human Genetics|October 27, 2009
Identification of CANT1 mutations in Desbuquois dysplasiaCéline Huber, Bénédicte Oulès, Marta Bertoli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2016
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissectionsJosephina A N Meester, Geert Vandeweyer, Isabel Pintelon, et al.
Nature Genetics|October 22, 2002
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndromeRuti Parvari, Eli Hershkovitz, Nili Grossman, et al.
Plos Genetics|April 6, 2018
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasisGretl Hendrickx, Vere M Borra, Ellen Steenackers, et al.
Journal of Translational Medicine|August 25, 2019
Diagnosing enterovirus meningitis via blood transcriptomics: an alternative for lumbar puncture?Esther Bartholomeus, Nicolas De Neuter, Annelies Lemay, et al.
European Journal of Human Genetics : EJHG|December 20, 2024
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasiaPrince Jacob, Swati Singh, Gandham SriLakshmi Bhavani, et al.
Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.
Journal of Medical Genetics|October 17, 2009
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndromeBernard Thienpont, Frédérique Béna, Jeroen Breckpot, et al.
Nature Genetics|October 2, 2012
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysmAlexander J Doyle, Jefferson J Doyle, Seneca L Bessling, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 28, 2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation frameworkRyan F Webb, Hannah McCurry, Amanda Girod, et al.
Pageof 16

Showing results (131-140 of 156) with videos related to

Sort By:
Pageof 16
American Journal of Human Genetics|October 27, 2009
Identification of CANT1 mutations in Desbuquois dysplasiaCéline Huber, Bénédicte Oulès, Marta Bertoli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2016
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissectionsJosephina A N Meester, Geert Vandeweyer, Isabel Pintelon, et al.
Nature Genetics|October 22, 2002
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndromeRuti Parvari, Eli Hershkovitz, Nili Grossman, et al.
Plos Genetics|April 6, 2018
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasisGretl Hendrickx, Vere M Borra, Ellen Steenackers, et al.
Journal of Translational Medicine|August 25, 2019
Diagnosing enterovirus meningitis via blood transcriptomics: an alternative for lumbar puncture?Esther Bartholomeus, Nicolas De Neuter, Annelies Lemay, et al.
European Journal of Human Genetics : EJHG|December 20, 2024
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasiaPrince Jacob, Swati Singh, Gandham SriLakshmi Bhavani, et al.
Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.
Journal of Medical Genetics|October 17, 2009
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndromeBernard Thienpont, Frédérique Béna, Jeroen Breckpot, et al.
Nature Genetics|October 2, 2012
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysmAlexander J Doyle, Jefferson J Doyle, Seneca L Bessling, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 28, 2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation frameworkRyan F Webb, Hannah McCurry, Amanda Girod, et al.
Pageof 16