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Geert Mortier

Showing results (61-70 of 156) with videos related to

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American Journal of Human Genetics|March 4, 2014
XYLT1 mutations in Desbuquois dysplasia type 2Catherine Bui, Céline Huber, Beyhan Tuysuz, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 7, 2016
Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorderCéline Helsmoortel, Sigrid M A Swagemakers, Geert Vandeweyer, et al.
Orphanet Journal of Rare Diseases|May 23, 2013
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndromeFransiska Malfait, Sofie Symoens, Nathalie Goemans, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Temple-Baraitser syndrome: a rare and possibly unrecognized conditionAdeline Jacquinet, Marion Gérard, Michael T Gabbett, et al.
American Journal of Medical Genetics. Part A|December 14, 2006
COL2A1-related skeletal dysplasias with predominant metaphyseal involvementKerstin Walter, Mojca Tansek, Edward S Tobias, et al.
Human Mutation|August 10, 2004
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNALucia Susani, Alessandra Pangrazio, Cristina Sobacchi, et al.
American Journal of Human Genetics|December 17, 2009
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasiaJan Hellemans, Marleen Simon, Annelies Dheedene, et al.
Stem Cell Research|March 26, 2023
IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)Pauline De Kinderen, Laura Rabaut, Melanie H A M Perik, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3Alma Kuechler, Karen Buysse, Jill Clayton-Smith, et al.
Calcified Tissue International|June 26, 2021
A Panel-Based Sequencing Analysis of Patients with Paget's Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 LocusRaphaël De Ridder, Geert Vandeweyer, Eveline Boudin, et al.
Pageof 16

Showing results (61-70 of 156) with videos related to

Sort By:
Pageof 16
American Journal of Human Genetics|March 4, 2014
XYLT1 mutations in Desbuquois dysplasia type 2Catherine Bui, Céline Huber, Beyhan Tuysuz, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 7, 2016
Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorderCéline Helsmoortel, Sigrid M A Swagemakers, Geert Vandeweyer, et al.
Orphanet Journal of Rare Diseases|May 23, 2013
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndromeFransiska Malfait, Sofie Symoens, Nathalie Goemans, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Temple-Baraitser syndrome: a rare and possibly unrecognized conditionAdeline Jacquinet, Marion Gérard, Michael T Gabbett, et al.
American Journal of Medical Genetics. Part A|December 14, 2006
COL2A1-related skeletal dysplasias with predominant metaphyseal involvementKerstin Walter, Mojca Tansek, Edward S Tobias, et al.
Human Mutation|August 10, 2004
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNALucia Susani, Alessandra Pangrazio, Cristina Sobacchi, et al.
American Journal of Human Genetics|December 17, 2009
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasiaJan Hellemans, Marleen Simon, Annelies Dheedene, et al.
Stem Cell Research|March 26, 2023
IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)Pauline De Kinderen, Laura Rabaut, Melanie H A M Perik, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3Alma Kuechler, Karen Buysse, Jill Clayton-Smith, et al.
Calcified Tissue International|June 26, 2021
A Panel-Based Sequencing Analysis of Patients with Paget's Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 LocusRaphaël De Ridder, Geert Vandeweyer, Eveline Boudin, et al.
Pageof 16