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Tom Walsh

Showing results (181-190 of 193) with videos related to

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Blood|December 30, 2015
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignanciesMaya Lewinsohn, Anna L Brown, Luke M Weinel, et al.
American Journal of Human Genetics|September 24, 2013
Actionable, pathogenic incidental findings in 1,000 participants' exomesMichael O Dorschner, Laura M Amendola, Emily H Turner, et al.
Science (New York, N.Y.)|March 17, 2007
Strong association of de novo copy number mutations with autismJonathan Sebat, B Lakshmi, Dheeraj Malhotra, et al.
American Journal of Human Genetics|April 2, 2013
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseEmma M Jenkinson, Atteeq U Rehman, Tom Walsh, et al.
Leukemia|January 29, 2021
Germline variants drive myelodysplastic syndrome in young adultsSimone Feurstein, Jane E Churpek, Tom Walsh, et al.
The New England Journal of Medicine|February 21, 2014
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathyPaulina Navon Elkan, Sarah B Pierce, Reeval Segel, et al.
Science (New York, N.Y.)|March 29, 2008
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophreniaTom Walsh, Jon M McClellan, Shane E McCarthy, et al.
The New England Journal of Medicine|July 20, 2016
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate CancerColin C Pritchard, Joaquin Mateo, Michael F Walsh, et al.
Clinical Genetics|October 28, 2020
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1Zippora Brownstein, Suleyman Gulsuner, Tom Walsh, et al.
American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Pageof 20

Showing results (181-190 of 193) with videos related to

Sort By:
Pageof 20
Blood|December 30, 2015
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignanciesMaya Lewinsohn, Anna L Brown, Luke M Weinel, et al.
American Journal of Human Genetics|September 24, 2013
Actionable, pathogenic incidental findings in 1,000 participants' exomesMichael O Dorschner, Laura M Amendola, Emily H Turner, et al.
Science (New York, N.Y.)|March 17, 2007
Strong association of de novo copy number mutations with autismJonathan Sebat, B Lakshmi, Dheeraj Malhotra, et al.
American Journal of Human Genetics|April 2, 2013
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseEmma M Jenkinson, Atteeq U Rehman, Tom Walsh, et al.
Leukemia|January 29, 2021
Germline variants drive myelodysplastic syndrome in young adultsSimone Feurstein, Jane E Churpek, Tom Walsh, et al.
The New England Journal of Medicine|February 21, 2014
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathyPaulina Navon Elkan, Sarah B Pierce, Reeval Segel, et al.
Science (New York, N.Y.)|March 29, 2008
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophreniaTom Walsh, Jon M McClellan, Shane E McCarthy, et al.
The New England Journal of Medicine|July 20, 2016
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate CancerColin C Pritchard, Joaquin Mateo, Michael F Walsh, et al.
Clinical Genetics|October 28, 2020
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1Zippora Brownstein, Suleyman Gulsuner, Tom Walsh, et al.
American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Pageof 20