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Sebastian Lunke

Showing results (81-90 of 117) with videos related to

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Journal of Genetic Counseling|February 19, 2019
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare systemMelissa Martyn, Anaita Kanga-Parabia, Elly Lynch, 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.
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.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|April 27, 2016
Response to Cetuximab With or Without Irinotecan in Patients With Refractory Metastatic Colorectal Cancer Harboring the KRAS G13D Mutation: Australasian Gastro-Intestinal Trials Group ICECREAM StudyEva Segelov, Subotheni Thavaneswaran, Paul M Waring, et al.
International Journal of Molecular Sciences|February 25, 2023
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head TraumaNicole J Van Bergen, Karen Gunanayagam, Adam M Bournazos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2020
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patientsAlison Yeung, Natalie B Tan, Tiong Y Tan, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disabilityDavid I Francis, Zornitza Stark, Ingrid E Scheffer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2025
Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analysesYuchen Chang, Emma M Rath, Magdalena Soka, et al.
BMJ Open|April 3, 2024
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocolSebastian Lunke, Sophie E Bouffler, Lilian Downie, et al.
International Journal of Molecular Sciences|January 21, 2022
Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial FunctionNicole J Van Bergen, Daniella H Hock, Lucy Spencer, et al.
Pageof 12

Showing results (81-90 of 117) with videos related to

Sort By:
Pageof 12
Journal of Genetic Counseling|February 19, 2019
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare systemMelissa Martyn, Anaita Kanga-Parabia, Elly Lynch, 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.
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.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|April 27, 2016
Response to Cetuximab With or Without Irinotecan in Patients With Refractory Metastatic Colorectal Cancer Harboring the KRAS G13D Mutation: Australasian Gastro-Intestinal Trials Group ICECREAM StudyEva Segelov, Subotheni Thavaneswaran, Paul M Waring, et al.
International Journal of Molecular Sciences|February 25, 2023
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head TraumaNicole J Van Bergen, Karen Gunanayagam, Adam M Bournazos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2020
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patientsAlison Yeung, Natalie B Tan, Tiong Y Tan, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disabilityDavid I Francis, Zornitza Stark, Ingrid E Scheffer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2025
Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analysesYuchen Chang, Emma M Rath, Magdalena Soka, et al.
BMJ Open|April 3, 2024
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocolSebastian Lunke, Sophie E Bouffler, Lilian Downie, et al.
International Journal of Molecular Sciences|January 21, 2022
Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial FunctionNicole J Van Bergen, Daniella H Hock, Lucy Spencer, et al.
Pageof 12