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Susan M White

Showing results (81-90 of 160) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndromeGregory Costain, Bert Callewaert, Heinz Gabriel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2015
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for careBrian T Wilson, Zornitza Stark, Ruth E Sutton, et al.
American Journal of Medical Genetics|October 3, 2002
The mutational spectrum of brachydactyly type CDavid B Everman, Cynthia F Bartels, Yue Yang, et al.
Molecular Genetics & Genomic Medicine|September 24, 2020
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature reviewNatalie B Tan, Rachel Stapleton, Zornitza Stark, et al.
Journal of Paediatrics and Child Health|February 10, 2021
Paediatric genomic testing: Navigating medicare rebatable genomic testingRani Sachdev, Mike Field, Gareth S Baynam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 16, 2018
Meeting the challenges of implementing rapid genomic testing in acute pediatric careZornitza Stark, Sebastian Lunke, Gemma R Brett, et al.
Nature Genetics|April 28, 2015
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndromeFanny Kortüm, Viviana Caputo, Christiane K Bauer, et al.
The Journal of Experimental Medicine|December 14, 2020
ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patientsKatja Apelt, Susan M White, Hyun Suk Kim, et al.
American Journal of Medical Genetics. Part A|May 7, 2019
Clinical and molecular spectrum of CHOPS syndromeSarah E Raible, Devanshi Mehta, Chiara Bettale, et al.
Human Mutation|December 11, 2019
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotypeGökhan Yigit, Ken Saida, Danielle DeMarzo, et al.
Pageof 16

Showing results (81-90 of 160) with videos related to

Sort By:
Pageof 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndromeGregory Costain, Bert Callewaert, Heinz Gabriel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2015
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for careBrian T Wilson, Zornitza Stark, Ruth E Sutton, et al.
American Journal of Medical Genetics|October 3, 2002
The mutational spectrum of brachydactyly type CDavid B Everman, Cynthia F Bartels, Yue Yang, et al.
Molecular Genetics & Genomic Medicine|September 24, 2020
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature reviewNatalie B Tan, Rachel Stapleton, Zornitza Stark, et al.
Journal of Paediatrics and Child Health|February 10, 2021
Paediatric genomic testing: Navigating medicare rebatable genomic testingRani Sachdev, Mike Field, Gareth S Baynam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 16, 2018
Meeting the challenges of implementing rapid genomic testing in acute pediatric careZornitza Stark, Sebastian Lunke, Gemma R Brett, et al.
Nature Genetics|April 28, 2015
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndromeFanny Kortüm, Viviana Caputo, Christiane K Bauer, et al.
The Journal of Experimental Medicine|December 14, 2020
ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patientsKatja Apelt, Susan M White, Hyun Suk Kim, et al.
American Journal of Medical Genetics. Part A|May 7, 2019
Clinical and molecular spectrum of CHOPS syndromeSarah E Raible, Devanshi Mehta, Chiara Bettale, et al.
Human Mutation|December 11, 2019
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotypeGökhan Yigit, Ken Saida, Danielle DeMarzo, et al.
Pageof 16