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Han G Brunner

Showing results (151-160 of 318) with videos related to

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Human Mutation|March 22, 2007
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairmentRob W J Collin, Ersan Kalay, Jaap Oostrik, et al.
Clinical Genetics|October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 geneServi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
Human Molecular Genetics|March 16, 2007
Characterization of a recurrent 15q24 microdeletion syndromeAndrew J Sharp, Rebecca R Selzer, Joris A Veltman, et al.
Human Mutation|September 17, 2013
Clinical significance of de novo and inherited copy-number variationAnneke T Vulto-van Silfhout, Jayne Y Hehir-Kwa, Bregje W M van Bon, et al.
JACC. Basic to Translational Science|May 4, 2023
Clustering of Cardiac Transcriptome Profiles Reveals Unique: Subgroups of Dilated Cardiomyopathy PatientsJob A J Verdonschot, Ping Wang, Kasper W J Derks, et al.
American Journal of Human Genetics|December 23, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genesErica L Harris, Vincent Roy, Martin Montagne, et al.
Journal of Medical Genetics|March 8, 2011
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndromeHeleen H Arts, Ernie M H F Bongers, Dorus A Mans, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
Human disease genes website series: An international, open and dynamic library for up-to-date clinical informationAlexander J M Dingemans, Diante E Stremmelaar, Lisenka E L M Vissers, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variantsGaby Schobers, Maartje Pennings, Juliette de Vries, et al.
American Journal of Medical Genetics. Part A|October 26, 2011
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)Lisenka E L M Vissers, Virginia Fano, Diego Martinelli, et al.
Pageof 32

Showing results (151-160 of 318) with videos related to

Sort By:
Pageof 32
Human Mutation|March 22, 2007
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairmentRob W J Collin, Ersan Kalay, Jaap Oostrik, et al.
Clinical Genetics|October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 geneServi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
Human Molecular Genetics|March 16, 2007
Characterization of a recurrent 15q24 microdeletion syndromeAndrew J Sharp, Rebecca R Selzer, Joris A Veltman, et al.
Human Mutation|September 17, 2013
Clinical significance of de novo and inherited copy-number variationAnneke T Vulto-van Silfhout, Jayne Y Hehir-Kwa, Bregje W M van Bon, et al.
JACC. Basic to Translational Science|May 4, 2023
Clustering of Cardiac Transcriptome Profiles Reveals Unique: Subgroups of Dilated Cardiomyopathy PatientsJob A J Verdonschot, Ping Wang, Kasper W J Derks, et al.
American Journal of Human Genetics|December 23, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genesErica L Harris, Vincent Roy, Martin Montagne, et al.
Journal of Medical Genetics|March 8, 2011
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndromeHeleen H Arts, Ernie M H F Bongers, Dorus A Mans, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
Human disease genes website series: An international, open and dynamic library for up-to-date clinical informationAlexander J M Dingemans, Diante E Stremmelaar, Lisenka E L M Vissers, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variantsGaby Schobers, Maartje Pennings, Juliette de Vries, et al.
American Journal of Medical Genetics. Part A|October 26, 2011
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)Lisenka E L M Vissers, Virginia Fano, Diego Martinelli, et al.
Pageof 32