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Tom Walsh

Showing results (91-100 of 193) with videos related to

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Journal of Pediatric Hematology/Oncology|June 4, 2016
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic AnalysisOrna Steinberg-Shemer, Siobán Keel, Orly Dgany, et al.
American Journal of Human Genetics|June 12, 2018
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair GenesBrian H Shirts, Eric Q Konnick, Sarah Upham, et al.
The Science of the Total Environment|January 13, 2022
Bioaccumulation and impact of maternal PFAS offloading on egg biochemistry from wild-caught freshwater turtles (Emydura macquarii macquarii)David J Beale, Sandra Nilsson, Utpal Bose, et al.
Water Research|December 21, 2024
Impact of stormwater on biofilm density and microbial community composition in water distribution networksAnna H Kaksonen, Jason Wylie, Matthew J Morgan, et al.
Water Research|March 12, 2024
Prokaryotic microbial ecology as an ecosurveillance tool for eukaryotic pathogen colonisation: Meiothermus and Naegleria fowleriNatalia Malinowski, Matthew J Morgan, Jason Wylie, et al.
American Journal of Human Genetics|July 7, 2010
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82Tom Walsh, Hashem Shahin, Tal Elkan-Miller, et al.
American Journal of Human Genetics|August 3, 2010
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault SyndromeSarah B Pierce, Tom Walsh, Karen M Chisholm, et al.
Journal of Human Genetics|August 8, 2014
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutationHirotomo Saitsu, Jun Tohyama, Tom Walsh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2014
Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposisBrian H Shirts, Stephen J Salipante, Silvia Casadei, et al.
Cancer|July 20, 2012
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinomaKathryn P Pennington, Tom Walsh, Ming Lee, et al.
Pageof 20

Showing results (91-100 of 193) with videos related to

Sort By:
Pageof 20
Journal of Pediatric Hematology/Oncology|June 4, 2016
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic AnalysisOrna Steinberg-Shemer, Siobán Keel, Orly Dgany, et al.
American Journal of Human Genetics|June 12, 2018
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair GenesBrian H Shirts, Eric Q Konnick, Sarah Upham, et al.
The Science of the Total Environment|January 13, 2022
Bioaccumulation and impact of maternal PFAS offloading on egg biochemistry from wild-caught freshwater turtles (Emydura macquarii macquarii)David J Beale, Sandra Nilsson, Utpal Bose, et al.
Water Research|December 21, 2024
Impact of stormwater on biofilm density and microbial community composition in water distribution networksAnna H Kaksonen, Jason Wylie, Matthew J Morgan, et al.
Water Research|March 12, 2024
Prokaryotic microbial ecology as an ecosurveillance tool for eukaryotic pathogen colonisation: Meiothermus and Naegleria fowleriNatalia Malinowski, Matthew J Morgan, Jason Wylie, et al.
American Journal of Human Genetics|July 7, 2010
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82Tom Walsh, Hashem Shahin, Tal Elkan-Miller, et al.
American Journal of Human Genetics|August 3, 2010
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault SyndromeSarah B Pierce, Tom Walsh, Karen M Chisholm, et al.
Journal of Human Genetics|August 8, 2014
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutationHirotomo Saitsu, Jun Tohyama, Tom Walsh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2014
Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposisBrian H Shirts, Stephen J Salipante, Silvia Casadei, et al.
Cancer|July 20, 2012
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinomaKathryn P Pennington, Tom Walsh, Ming Lee, et al.
Pageof 20