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Alexander Hoischen

Showing results (151-160 of 249) with videos related to

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Plos Genetics|June 27, 2015
Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language ImpairmentPía Villanueva, Ron Nudel, Alexander Hoischen, et al.
Human Molecular Genetics|January 2, 2016
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse functionWei Ba, Yan Yan, Margot R F Reijnders, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|August 17, 2018
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's diseaseGaël Nicolas, Rocío Acuña-Hidalgo, Michael J Keogh, et al.
Genome Research|March 20, 2025
Optical genome mapping enables accurate testing of large repeat expansionsBart van der Sanden, Kornelia Neveling, Syukri Shukor, et al.
Nature Communications|June 13, 2015
De novo mutations in PLXND1 and REV3L cause Möbius syndromeLaura Tomas-Roca, Anastasia Tsaalbi-Shtylik, Jacob G Jansen, et al.
Human Molecular Genetics|December 16, 2014
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
Nature|June 5, 2014
Genome sequencing identifies major causes of severe intellectual disabilityChristian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, et al.
The Journal of Allergy and Clinical Immunology|May 28, 2021
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXASCaspar I van der Made, Judith Potjewijd, Annemiek Hoogstins, et al.
American Journal of Human Genetics|January 31, 2017
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired EndocytosisMarkus Riessland, Anna Kaczmarek, Svenja Schneider, et al.
Plos Genetics|March 18, 2015
Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairmentPía Villanueva, Ron Nudel, Alexander Hoischen, et al.
Pageof 25

Showing results (151-160 of 249) with videos related to

Sort By:
Pageof 25
Plos Genetics|June 27, 2015
Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language ImpairmentPía Villanueva, Ron Nudel, Alexander Hoischen, et al.
Human Molecular Genetics|January 2, 2016
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse functionWei Ba, Yan Yan, Margot R F Reijnders, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|August 17, 2018
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's diseaseGaël Nicolas, Rocío Acuña-Hidalgo, Michael J Keogh, et al.
Genome Research|March 20, 2025
Optical genome mapping enables accurate testing of large repeat expansionsBart van der Sanden, Kornelia Neveling, Syukri Shukor, et al.
Nature Communications|June 13, 2015
De novo mutations in PLXND1 and REV3L cause Möbius syndromeLaura Tomas-Roca, Anastasia Tsaalbi-Shtylik, Jacob G Jansen, et al.
Human Molecular Genetics|December 16, 2014
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
Nature|June 5, 2014
Genome sequencing identifies major causes of severe intellectual disabilityChristian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, et al.
The Journal of Allergy and Clinical Immunology|May 28, 2021
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXASCaspar I van der Made, Judith Potjewijd, Annemiek Hoogstins, et al.
American Journal of Human Genetics|January 31, 2017
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired EndocytosisMarkus Riessland, Anna Kaczmarek, Svenja Schneider, et al.
Plos Genetics|March 18, 2015
Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairmentPía Villanueva, Ron Nudel, Alexander Hoischen, et al.
Pageof 25