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Horia Stanescu

Showing results (11-20 of 30) with videos related to

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American Journal of Medical Genetics. Part A|April 5, 2014
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlationSuzanne Drury, Christopher Boustred, Mehmet Tekman, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 25, 2010
Screening of human LPHN3 for variants with a potential impact on ADHD susceptibilitySabina Domené, Horia Stanescu, Deeann Wallis, et al.
Molecular Genetics & Genomic Medicine|April 3, 2021
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)Sumaya Islam, Mehmet Tekman, Sarah E Flanagan, et al.
Annals of Human Genetics|June 16, 2009
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprintingHoria Stanescu, Tyra G Wolfsberg, R Travis Moreland, et al.
Plos One|April 27, 2023
Membranous nephropathy in the UK BiobankPatrick Hamilton, Kieran Blaikie, Stephen A Roberts, et al.
Attention Deficit and Hyperactivity Disorders|March 25, 2011
Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolateDeeann Wallis, Mauricio Arcos-Burgos, Mahim Jain, et al.
Life Science Alliance|December 29, 2019
TRAP1 chaperone protein mutations and autoinflammationAriane Si Standing, Ying Hong, Coro Paisan-Ruiz, et al.
Journal of the American Society of Nephrology : JASN|February 18, 2017
Galactosylation of IgA1 Is Associated with Common Variation in <i>C1GALT1</i>Daniel P Gale, Karen Molyneux, David Wimbury, et al.
Kidney International Reports|June 25, 2021
Identification of a Locus on the X Chromosome Linked to Familial Membranous NephropathyMallory L Downie, Sanjana Gupta, Mehmet C Tekman, et al.
Haematologica|February 18, 2021
Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpuraMatthew J Stubbs, Paul Coppo, Chris Cheshire, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|April 5, 2014
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlationSuzanne Drury, Christopher Boustred, Mehmet Tekman, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 25, 2010
Screening of human LPHN3 for variants with a potential impact on ADHD susceptibilitySabina Domené, Horia Stanescu, Deeann Wallis, et al.
Molecular Genetics & Genomic Medicine|April 3, 2021
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)Sumaya Islam, Mehmet Tekman, Sarah E Flanagan, et al.
Annals of Human Genetics|June 16, 2009
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprintingHoria Stanescu, Tyra G Wolfsberg, R Travis Moreland, et al.
Plos One|April 27, 2023
Membranous nephropathy in the UK BiobankPatrick Hamilton, Kieran Blaikie, Stephen A Roberts, et al.
Attention Deficit and Hyperactivity Disorders|March 25, 2011
Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolateDeeann Wallis, Mauricio Arcos-Burgos, Mahim Jain, et al.
Life Science Alliance|December 29, 2019
TRAP1 chaperone protein mutations and autoinflammationAriane Si Standing, Ying Hong, Coro Paisan-Ruiz, et al.
Journal of the American Society of Nephrology : JASN|February 18, 2017
Galactosylation of IgA1 Is Associated with Common Variation in <i>C1GALT1</i>Daniel P Gale, Karen Molyneux, David Wimbury, et al.
Kidney International Reports|June 25, 2021
Identification of a Locus on the X Chromosome Linked to Familial Membranous NephropathyMallory L Downie, Sanjana Gupta, Mehmet C Tekman, et al.
Haematologica|February 18, 2021
Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpuraMatthew J Stubbs, Paul Coppo, Chris Cheshire, et al.
Pageof 3