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Alexander Hoischen

Showing results (161-170 of 249) with videos related to

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American Journal of Human Genetics|February 12, 2013
Mutations in MED12 cause X-linked Ohdo syndromeAnneke T Vulto-van Silfhout, Bert B A de Vries, Bregje W M van Bon, et al.
Nature Microbiology|August 26, 2020
Transcriptional and functional insights into the host immune response against the emerging fungal pathogen Candida aurisMariolina Bruno, Simone Kersten, Judith M Bain, et al.
Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.
The Journal of Molecular Diagnostics : JMD|May 8, 2021
Clinical Validation of Whole Genome Sequencing for Cancer DiagnosticsPaul Roepman, Ewart de Bruijn, Stef van Lieshout, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendationsMaria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variantsRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Nature Genetics|June 28, 2011
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, et al.
Brain : a Journal of Neurology|February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiencyMonique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
Immunometabolism|July 16, 2021
oxLDL-Induced Trained Immunity Is Dependent on Mitochondrial Metabolic ReprogrammingLaszlo A Groh, Anaisa V Ferreira, Leonie Helder, et al.
Plos Genetics|September 3, 2010
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locusEvelyn N Kouwenhoven, Simon J van Heeringen, Juan J Tena, et al.
Pageof 25

Showing results (161-170 of 249) with videos related to

Sort By:
Pageof 25
American Journal of Human Genetics|February 12, 2013
Mutations in MED12 cause X-linked Ohdo syndromeAnneke T Vulto-van Silfhout, Bert B A de Vries, Bregje W M van Bon, et al.
Nature Microbiology|August 26, 2020
Transcriptional and functional insights into the host immune response against the emerging fungal pathogen Candida aurisMariolina Bruno, Simone Kersten, Judith M Bain, et al.
Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.
The Journal of Molecular Diagnostics : JMD|May 8, 2021
Clinical Validation of Whole Genome Sequencing for Cancer DiagnosticsPaul Roepman, Ewart de Bruijn, Stef van Lieshout, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendationsMaria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variantsRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Nature Genetics|June 28, 2011
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, et al.
Brain : a Journal of Neurology|February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiencyMonique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
Immunometabolism|July 16, 2021
oxLDL-Induced Trained Immunity Is Dependent on Mitochondrial Metabolic ReprogrammingLaszlo A Groh, Anaisa V Ferreira, Leonie Helder, et al.
Plos Genetics|September 3, 2010
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locusEvelyn N Kouwenhoven, Simon J van Heeringen, Juan J Tena, et al.
Pageof 25