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Han G Brunner

Showing results (71-80 of 318) with videos related to

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American Journal of Medical Genetics|July 13, 2002
Expanding phenotype of XNP mutations: mild to moderate mental retardationHelger G Yntema, Francis A Poppelaars, Esther Derksen, et al.
Human Molecular Genetics|December 10, 2015
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorderElliot Sollis, Sarah A Graham, Arianna Vino, et al.
American Journal of Human Genetics|March 19, 2021
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effectsHila Fridman, Helger G Yntema, Reedik Mägi, et al.
Journal of Medical Genetics|February 12, 2015
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)Anna Tylki-Szymańska, Rocio Acuna-Hidalgo, Małgorzata Krajewska-Walasek, et al.
Journal of Human Genetics|July 26, 2006
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1David A Koolen, Jos Herbergs, Joris A Veltman, et al.
Molecular Genetics & Genomic Medicine|March 25, 2018
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 geneVyne van der Schoot, Sonja de Munnik, Hanka Venselaar, et al.
European Journal of Human Genetics : EJHG|May 26, 2006
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 geneTuula Rinne, Emanuela Spadoni, Klaus W Kjaer, et al.
European Journal of Human Genetics : EJHG|November 14, 2018
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variantsFlorence H J van Tienen, Patrick J Lindsey, Miriam A F Kamps, et al.
European Journal of Human Genetics : EJHG|July 12, 2002
Low frequency of MECP2 mutations in mentally retarded malesHelger G Yntema, Tjitske Kleefstra, Astrid R Oudakker, et al.
Genomics Data|August 11, 2015
Platform comparison of detecting copy number variants with microarrays and whole-exome sequencingJoep de Ligt, Philip M Boone, Rolph Pfundt, et al.
Pageof 32

Showing results (71-80 of 318) with videos related to

Sort By:
Pageof 32
American Journal of Medical Genetics|July 13, 2002
Expanding phenotype of XNP mutations: mild to moderate mental retardationHelger G Yntema, Francis A Poppelaars, Esther Derksen, et al.
Human Molecular Genetics|December 10, 2015
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorderElliot Sollis, Sarah A Graham, Arianna Vino, et al.
American Journal of Human Genetics|March 19, 2021
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effectsHila Fridman, Helger G Yntema, Reedik Mägi, et al.
Journal of Medical Genetics|February 12, 2015
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)Anna Tylki-Szymańska, Rocio Acuna-Hidalgo, Małgorzata Krajewska-Walasek, et al.
Journal of Human Genetics|July 26, 2006
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1David A Koolen, Jos Herbergs, Joris A Veltman, et al.
Molecular Genetics & Genomic Medicine|March 25, 2018
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 geneVyne van der Schoot, Sonja de Munnik, Hanka Venselaar, et al.
European Journal of Human Genetics : EJHG|May 26, 2006
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 geneTuula Rinne, Emanuela Spadoni, Klaus W Kjaer, et al.
European Journal of Human Genetics : EJHG|November 14, 2018
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variantsFlorence H J van Tienen, Patrick J Lindsey, Miriam A F Kamps, et al.
European Journal of Human Genetics : EJHG|July 12, 2002
Low frequency of MECP2 mutations in mentally retarded malesHelger G Yntema, Tjitske Kleefstra, Astrid R Oudakker, et al.
Genomics Data|August 11, 2015
Platform comparison of detecting copy number variants with microarrays and whole-exome sequencingJoep de Ligt, Philip M Boone, Rolph Pfundt, et al.
Pageof 32