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G Brunner

Showing results (481-490 of 727) with videos related to

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Transplantation|April 10, 2019
Brain Death Enhances Activation of the Innate Immune System and Leads to Reduced Renal Metabolic Gene ExpressionLaura J Zitur, Peter J Chlebeck, Scott K Odorico, et al.
Cytogenetic and Genome Research|September 29, 2007
Variation of CNV distribution in five different ethnic populationsS J White, L E L M Vissers, A Geurts van Kessel, et al.
American Journal of Human Genetics|July 11, 2006
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeTjitske Kleefstra, Han G Brunner, Jeanne Amiel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2020
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalitiesLot Snijders Blok, Arianna Vino, Joery den Hoed, et al.
Genomics|January 25, 2000
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardationH G Yntema, B van den Helm, J Kissing, et al.
Genome Medicine|December 15, 2016
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphismsServi J C Stevens, Anthonie J van Essen, Conny M A van Ravenswaaij, et al.
Clinical Genetics|November 22, 2008
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndromeM C J Jongmans, C M A van Ravenswaaij-Arts, N Pitteloud, et al.
Circulation. Genomic and Precision Medicine|September 4, 2020
Implications of Genetic Testing in Dilated CardiomyopathyJob A J Verdonschot, Mark R Hazebroek, Ingrid P C Krapels, et al.
European Journal of Human Genetics : EJHG|May 17, 2023
Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathySophie L V M Stroeks, Debby Hellebrekers, Godelieve R F Claes, et al.
Human Mutation|January 12, 2017
Quantification of Phenotype Information Aids the Identification of Novel Disease GenesAnneke T Vulto-van Silfhout, Christian Gilissen, Jelle J Goeman, et al.
Pageof 73

Showing results (481-490 of 727) with videos related to

Sort By:
Pageof 73
Transplantation|April 10, 2019
Brain Death Enhances Activation of the Innate Immune System and Leads to Reduced Renal Metabolic Gene ExpressionLaura J Zitur, Peter J Chlebeck, Scott K Odorico, et al.
Cytogenetic and Genome Research|September 29, 2007
Variation of CNV distribution in five different ethnic populationsS J White, L E L M Vissers, A Geurts van Kessel, et al.
American Journal of Human Genetics|July 11, 2006
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeTjitske Kleefstra, Han G Brunner, Jeanne Amiel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2020
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalitiesLot Snijders Blok, Arianna Vino, Joery den Hoed, et al.
Genomics|January 25, 2000
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardationH G Yntema, B van den Helm, J Kissing, et al.
Genome Medicine|December 15, 2016
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphismsServi J C Stevens, Anthonie J van Essen, Conny M A van Ravenswaaij, et al.
Clinical Genetics|November 22, 2008
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndromeM C J Jongmans, C M A van Ravenswaaij-Arts, N Pitteloud, et al.
Circulation. Genomic and Precision Medicine|September 4, 2020
Implications of Genetic Testing in Dilated CardiomyopathyJob A J Verdonschot, Mark R Hazebroek, Ingrid P C Krapels, et al.
European Journal of Human Genetics : EJHG|May 17, 2023
Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathySophie L V M Stroeks, Debby Hellebrekers, Godelieve R F Claes, et al.
Human Mutation|January 12, 2017
Quantification of Phenotype Information Aids the Identification of Novel Disease GenesAnneke T Vulto-van Silfhout, Christian Gilissen, Jelle J Goeman, et al.
Pageof 73