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G Brunner

Showing results (531-540 of 727) with videos related to

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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.
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.
American Journal of Human Genetics|January 24, 2012
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndromeMichael A Simpson, Charu Deshpande, Dimitra Dafou, 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.
Journal of Medical Genetics|April 5, 2005
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndromeT Kleefstra, M Smidt, M J G Banning, 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.
Pageof 73

Showing results (531-540 of 727) with videos related to

Sort By:
Pageof 73
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.
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.
American Journal of Human Genetics|January 24, 2012
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndromeMichael A Simpson, Charu Deshpande, Dimitra Dafou, 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.
Journal of Medical Genetics|April 5, 2005
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndromeT Kleefstra, M Smidt, M J G Banning, 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.
Pageof 73