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Y Patel

Showing results (431-440 of 453) with videos related to

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Frontiers in Immunology|June 20, 2022
Increased Seroprevalence and Improved Antibody Responses Following Third Primary SARS-CoV-2 Immunisation: An Update From the COV-AD StudyAdrian M Shields, Sian E Faustini, Harriet J Hill, et al.
Cell Genomics|March 21, 2022
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identificationAlex H Wagner, Lawrence Babb, Gil Alterovitz, et al.
Human Mutation|October 13, 2018
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working GroupElizabeth M Webber, Jessica Ezzell Hunter, Leslie G Biesecker, et al.
Gut|March 9, 2016
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's diseaseTobias Schwerd, Sumeet Pandey, Huei-Ting Yang, et al.
Blood|June 15, 2011
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndromeAmy P Hsu, Elizabeth P Sampaio, Javed Khan, et al.
Blood|December 31, 2009
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasiaDonald C Vinh, Smita Y Patel, Gulbu Uzel, et al.
The New England Journal of Medicine|August 24, 2012
Adult-onset immunodeficiency in Thailand and TaiwanSarah K Browne, Peter D Burbelo, Ploenchan Chetchotisakd, et al.
American Journal of Human Genetics|May 17, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumLaura M Amendola, Gail P Jarvik, Michael C Leo, et al.
American Journal of Human Genetics|July 9, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumLaura M Amendola, Gail P Jarvik, Michael C Leo, et al.
Genome Medicine|January 18, 2022
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelinesChristine G Preston, Matt W Wright, Rao Madhavrao, et al.
Pageof 46

Showing results (431-440 of 453) with videos related to

Sort By:
Pageof 46
Frontiers in Immunology|June 20, 2022
Increased Seroprevalence and Improved Antibody Responses Following Third Primary SARS-CoV-2 Immunisation: An Update From the COV-AD StudyAdrian M Shields, Sian E Faustini, Harriet J Hill, et al.
Cell Genomics|March 21, 2022
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identificationAlex H Wagner, Lawrence Babb, Gil Alterovitz, et al.
Human Mutation|October 13, 2018
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working GroupElizabeth M Webber, Jessica Ezzell Hunter, Leslie G Biesecker, et al.
Gut|March 9, 2016
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's diseaseTobias Schwerd, Sumeet Pandey, Huei-Ting Yang, et al.
Blood|June 15, 2011
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndromeAmy P Hsu, Elizabeth P Sampaio, Javed Khan, et al.
Blood|December 31, 2009
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasiaDonald C Vinh, Smita Y Patel, Gulbu Uzel, et al.
The New England Journal of Medicine|August 24, 2012
Adult-onset immunodeficiency in Thailand and TaiwanSarah K Browne, Peter D Burbelo, Ploenchan Chetchotisakd, et al.
American Journal of Human Genetics|May 17, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumLaura M Amendola, Gail P Jarvik, Michael C Leo, et al.
American Journal of Human Genetics|July 9, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumLaura M Amendola, Gail P Jarvik, Michael C Leo, et al.
Genome Medicine|January 18, 2022
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelinesChristine G Preston, Matt W Wright, Rao Madhavrao, et al.
Pageof 46