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Augusto Rendon

Showing results (31-40 of 56) with videos related to

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American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
Genome Medicine|May 8, 2015
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disordersSarah K Westbury, Ernest Turro, Daniel Greene, et al.
Blood Advances|August 5, 2020
Development and validation of a universal blood donor genotyping platform: a multinational prospective studyNicholas S Gleadall, Barbera Veldhuisen, Jeremy Gollub, et al.
Nature Genetics|April 9, 2013
SMIM1 underlies the Vel blood group and influences red blood cell traitsAna Cvejic, Lonneke Haer-Wigman, Jonathan C Stephens, et al.
American Journal of Human Genetics|July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolutionZornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.
Science (New York, N.Y.)|May 25, 2019
Germline selection shapes human mitochondrial DNA diversityWei Wei, Salih Tuna, Michael J Keogh, et al.
Science Translational Medicine|March 4, 2016
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologiesErnest Turro, Daniel Greene, Anouck Wijgaerts, et al.
Blood|February 26, 2016
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing lossSimon Stritt, Paquita Nurden, Ernest Turro, et al.
Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaborationDuncan S Palmer, Barney Hill, Sam Hodgson, et al.
Nature Communications|July 14, 2017
Platelet function is modified by common sequence variation in megakaryocyte super enhancersRomina Petersen, John J Lambourne, Biola M Javierre, et al.
Pageof 6

Showing results (31-40 of 56) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
Genome Medicine|May 8, 2015
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disordersSarah K Westbury, Ernest Turro, Daniel Greene, et al.
Blood Advances|August 5, 2020
Development and validation of a universal blood donor genotyping platform: a multinational prospective studyNicholas S Gleadall, Barbera Veldhuisen, Jeremy Gollub, et al.
Nature Genetics|April 9, 2013
SMIM1 underlies the Vel blood group and influences red blood cell traitsAna Cvejic, Lonneke Haer-Wigman, Jonathan C Stephens, et al.
American Journal of Human Genetics|July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolutionZornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.
Science (New York, N.Y.)|May 25, 2019
Germline selection shapes human mitochondrial DNA diversityWei Wei, Salih Tuna, Michael J Keogh, et al.
Science Translational Medicine|March 4, 2016
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologiesErnest Turro, Daniel Greene, Anouck Wijgaerts, et al.
Blood|February 26, 2016
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing lossSimon Stritt, Paquita Nurden, Ernest Turro, et al.
Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaborationDuncan S Palmer, Barney Hill, Sam Hodgson, et al.
Nature Communications|July 14, 2017
Platelet function is modified by common sequence variation in megakaryocyte super enhancersRomina Petersen, John J Lambourne, Biola M Javierre, et al.
Pageof 6