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Sebastian Lunke

Showing results (71-80 of 117) with videos related to

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Neurology|December 19, 2024
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium StudySarah U Morton, Gregory Costain, Courtney E French, et al.
Pathology|May 3, 2025
Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophyEdwin Kirk, Linda Mundy, Eric Lee, et al.
Prostate Cancer and Prostatic Diseases|June 10, 2021
MSH2-deficient prostate tumours have a distinct immune response and clinical outcome compared to MSH2-deficient colorectal or endometrial cancerPatrick McCoy, Stefano Mangiola, Geoff Macintyre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 29, 2020
Parental experiences of ultrarapid genomic testing for their critically unwell infants and childrenGemma R Brett, Melissa Martyn, Fiona Lynch, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2024
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencingMegan Ball, Sophie E Bouffler, Christopher B Barnett, et al.
Human Molecular Genetics|May 3, 2023
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial diseaseSumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, et al.
Gut|July 27, 2016
Circulating tumour cells from patients with colorectal cancer have cancer stem cell hallmarks in <i>ex vivo</i> cultureFanny Grillet, Elsa Bayet, Olivia Villeronce, 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.
Pageof 12

Showing results (71-80 of 117) with videos related to

Sort By:
Pageof 12
Neurology|December 19, 2024
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium StudySarah U Morton, Gregory Costain, Courtney E French, et al.
Pathology|May 3, 2025
Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophyEdwin Kirk, Linda Mundy, Eric Lee, et al.
Prostate Cancer and Prostatic Diseases|June 10, 2021
MSH2-deficient prostate tumours have a distinct immune response and clinical outcome compared to MSH2-deficient colorectal or endometrial cancerPatrick McCoy, Stefano Mangiola, Geoff Macintyre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 29, 2020
Parental experiences of ultrarapid genomic testing for their critically unwell infants and childrenGemma R Brett, Melissa Martyn, Fiona Lynch, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2024
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencingMegan Ball, Sophie E Bouffler, Christopher B Barnett, et al.
Human Molecular Genetics|May 3, 2023
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial diseaseSumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, et al.
Gut|July 27, 2016
Circulating tumour cells from patients with colorectal cancer have cancer stem cell hallmarks in <i>ex vivo</i> cultureFanny Grillet, Elsa Bayet, Olivia Villeronce, 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.
Pageof 12