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Geert Mortier

Showing results (141-150 of 156) with videos related to

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American Journal of Medical Genetics. Part A|July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversityStephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individualsNuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, et al.
Human Mutation|April 28, 2012
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisMathilde Nizon, Céline Huber, Fabio De Leonardis, et al.
American Journal of Human Genetics|December 14, 2011
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxityEric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, et al.
American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.
European Journal of Endocrinology|January 16, 2026
International guideline on genetic testing of children with short statureAndrew Dauber, Alexander A L Jorge, Ola Nilsson, et al.
European Journal of Medical Genetics|March 3, 2009
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndromeNathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, et al.
Molecular Genetics & Genomic Medicine|August 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsySarah Duerinckx, Julie Désir, Camille Perazzolo, et al.
American Journal of Human Genetics|July 9, 2016
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with AnemiaNikhita Ajit Bolar, Christelle Golzio, Martina Živná, et al.
Human Molecular Genetics|February 12, 2015
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfectaMathilde Huckert, Corinne Stoetzel, Supawich Morkmued, et al.
Pageof 16

Showing results (141-150 of 156) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversityStephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individualsNuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, et al.
Human Mutation|April 28, 2012
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisMathilde Nizon, Céline Huber, Fabio De Leonardis, et al.
American Journal of Human Genetics|December 14, 2011
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxityEric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, et al.
American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.
European Journal of Endocrinology|January 16, 2026
International guideline on genetic testing of children with short statureAndrew Dauber, Alexander A L Jorge, Ola Nilsson, et al.
European Journal of Medical Genetics|March 3, 2009
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndromeNathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, et al.
Molecular Genetics & Genomic Medicine|August 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsySarah Duerinckx, Julie Désir, Camille Perazzolo, et al.
American Journal of Human Genetics|July 9, 2016
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with AnemiaNikhita Ajit Bolar, Christelle Golzio, Martina Živná, et al.
Human Molecular Genetics|February 12, 2015
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfectaMathilde Huckert, Corinne Stoetzel, Supawich Morkmued, et al.
Pageof 16