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Geert Mortier

Showing results (121-130 of 156) with videos related to

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American Journal of Human Genetics|August 3, 2010
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndromeValérie Malan, Diana Rajan, Sophie Thomas, et al.
Osteoarthritis and Cartilage|February 6, 2026
Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathwaySteven Woods, Nicola Bates, Stuart Cain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2012
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patientsSarah Vergult, A Jeannette M Hoogeboom, Emilia K Bijlsma, et al.
Nature Genetics|February 26, 2008
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformationsSheila Unger, Detlef Böhm, Frank J Kaiser, et al.
Human Mutation|April 13, 2016
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification SystemManou Sommen, Isabelle Schrauwen, Geert Vandeweyer, et al.
European Journal of Human Genetics : EJHG|October 10, 2013
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformationsSarah Vergult, Ellen Van Binsbergen, Tom Sante, et al.
Calcified Tissue International|March 14, 2025
Loss of the Ubiquitin-Associated Domain of sqstm1/p62 in Zebrafish Causes a Phenotype Resembling Paget's Disease of BoneYentl Huybrechts, Raphaël De Ridder, Dylan Bergen, et al.
The Journal of Experimental Medicine|March 3, 2025
Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patientsEvi Duthoo, Elien Beyls, Lynn Backers, et al.
Immunogenetics|December 3, 2017
Increased herpes zoster risk associated with poor HLA-A immediate early 62 protein (IE62) affinityPieter Meysman, Nicolas De Neuter, Esther Bartholomeus, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.
Pageof 16

Showing results (121-130 of 156) with videos related to

Sort By:
Pageof 16
American Journal of Human Genetics|August 3, 2010
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndromeValérie Malan, Diana Rajan, Sophie Thomas, et al.
Osteoarthritis and Cartilage|February 6, 2026
Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathwaySteven Woods, Nicola Bates, Stuart Cain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2012
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patientsSarah Vergult, A Jeannette M Hoogeboom, Emilia K Bijlsma, et al.
Nature Genetics|February 26, 2008
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformationsSheila Unger, Detlef Böhm, Frank J Kaiser, et al.
Human Mutation|April 13, 2016
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification SystemManou Sommen, Isabelle Schrauwen, Geert Vandeweyer, et al.
European Journal of Human Genetics : EJHG|October 10, 2013
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformationsSarah Vergult, Ellen Van Binsbergen, Tom Sante, et al.
Calcified Tissue International|March 14, 2025
Loss of the Ubiquitin-Associated Domain of sqstm1/p62 in Zebrafish Causes a Phenotype Resembling Paget's Disease of BoneYentl Huybrechts, Raphaël De Ridder, Dylan Bergen, et al.
The Journal of Experimental Medicine|March 3, 2025
Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patientsEvi Duthoo, Elien Beyls, Lynn Backers, et al.
Immunogenetics|December 3, 2017
Increased herpes zoster risk associated with poor HLA-A immediate early 62 protein (IE62) affinityPieter Meysman, Nicolas De Neuter, Esther Bartholomeus, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.
Pageof 16