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Tina Hambuch

Showing results (1-10 of 11) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2008
The role of the F508C mutation in congenital bilateral absence of the vas deferensViktoria Havasi, Steven Keiles, Tina Hambuch, et al.
JIMD Reports|February 23, 2013
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysisSachiko Nakagawa, Jie Zhan, Wei Sun, et al.
Human Mutation|May 16, 2014
Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methodsKyu-Baek Hwang, In-Hee Lee, Jin-Ho Park, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardizationCeleste Eno, Pinar Bayrak-Toydemir, Lora Bean, et al.
The Journal of Molecular Diagnostics : JMD|August 25, 2012
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular PathologyIris Schrijver, Nazneen Aziz, Daniel H Farkas, et al.
Molecular Genetics & Genomic Medicine|October 17, 2022
Scalable detection of technically challenging variants through modified next-generation sequencingSusan Rojahn, Tina Hambuch, Jessika Adrian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed diseaseAndrew M Gross, Subramanian S Ajay, Vani Rajan, et al.
Nature Genetics|June 12, 2012
BAP1 loss defines a new class of renal cell carcinomaSamuel Peña-Llopis, Silvia Vega-Rubín-de-Celis, Arnold Liao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2021
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementationStephen E Lincoln, Tina Hambuch, Justin M Zook, et al.
Annals of Neurology|May 10, 2016
Whole exome sequencing in patients with white matter abnormalitiesAdeline Vanderver, Cas Simons, Guy Helman, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2008
The role of the F508C mutation in congenital bilateral absence of the vas deferensViktoria Havasi, Steven Keiles, Tina Hambuch, et al.
JIMD Reports|February 23, 2013
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysisSachiko Nakagawa, Jie Zhan, Wei Sun, et al.
Human Mutation|May 16, 2014
Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methodsKyu-Baek Hwang, In-Hee Lee, Jin-Ho Park, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardizationCeleste Eno, Pinar Bayrak-Toydemir, Lora Bean, et al.
The Journal of Molecular Diagnostics : JMD|August 25, 2012
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular PathologyIris Schrijver, Nazneen Aziz, Daniel H Farkas, et al.
Molecular Genetics & Genomic Medicine|October 17, 2022
Scalable detection of technically challenging variants through modified next-generation sequencingSusan Rojahn, Tina Hambuch, Jessika Adrian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed diseaseAndrew M Gross, Subramanian S Ajay, Vani Rajan, et al.
Nature Genetics|June 12, 2012
BAP1 loss defines a new class of renal cell carcinomaSamuel Peña-Llopis, Silvia Vega-Rubín-de-Celis, Arnold Liao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2021
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementationStephen E Lincoln, Tina Hambuch, Justin M Zook, et al.
Annals of Neurology|May 10, 2016
Whole exome sequencing in patients with white matter abnormalitiesAdeline Vanderver, Cas Simons, Guy Helman, et al.
Pageof 2