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European Journal of Human Genetics : EJHG
|
February 2, 2023
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
Ari E Horton, Sebastian Lunke, Simon Sadedin, et al.
Journal of Thoracic Disease
|
October 18, 2016
The feasibility of molecular testing on cell blocks created from brush tip washings in the assessment of peripheral lung lesions
Asha Bonney, Michael Christie, Anne Beaty, et al.
BMC Genomics
|
November 19, 2010
Combining target enrichment with barcode multiplexing for high throughput SNP discovery
Nik Cummings, Rob King, Andre Rickers, et al.
Plos One
|
November 17, 2015
High-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq
Olga Kondrashova, Clare J Love, Sebastian Lunke, et al.
Human Molecular Genetics
|
October 31, 2008
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition
Jan Hauke, Markus Riessland, Sebastian Lunke, et al.
Clinical Epigenetics
|
March 21, 2021
Epigenetic evidence of an Ac/Dc axis by VPA and SAHA
Sebastian Lunke, Scott Maxwell, Ishant Khurana, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2021
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy
Christopher M Richmond, Paul A James, Sarah-Jane Pantaleo, et al.
European Journal of Human Genetics : EJHG
|
June 21, 2024
Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework
Erin Tutty, Alison D Archibald, Lilian Downie, et al.
European Journal of Human Genetics : EJHG
|
February 18, 2018
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 2, 2024
The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study
Dylan A Mordaunt, Francisco Santos Gonzalez, Sebastian Lunke, et al.
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Search research articles
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Showing results (11-20 of 117) with videos related to
Sort By:
Page
of 12
European Journal of Human Genetics : EJHG
|
February 2, 2023
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
Ari E Horton, Sebastian Lunke, Simon Sadedin, et al.
Journal of Thoracic Disease
|
October 18, 2016
The feasibility of molecular testing on cell blocks created from brush tip washings in the assessment of peripheral lung lesions
Asha Bonney, Michael Christie, Anne Beaty, et al.
BMC Genomics
|
November 19, 2010
Combining target enrichment with barcode multiplexing for high throughput SNP discovery
Nik Cummings, Rob King, Andre Rickers, et al.
Plos One
|
November 17, 2015
High-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq
Olga Kondrashova, Clare J Love, Sebastian Lunke, et al.
Human Molecular Genetics
|
October 31, 2008
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition
Jan Hauke, Markus Riessland, Sebastian Lunke, et al.
Clinical Epigenetics
|
March 21, 2021
Epigenetic evidence of an Ac/Dc axis by VPA and SAHA
Sebastian Lunke, Scott Maxwell, Ishant Khurana, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2021
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy
Christopher M Richmond, Paul A James, Sarah-Jane Pantaleo, et al.
European Journal of Human Genetics : EJHG
|
June 21, 2024
Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework
Erin Tutty, Alison D Archibald, Lilian Downie, et al.
European Journal of Human Genetics : EJHG
|
February 18, 2018
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 2, 2024
The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study
Dylan A Mordaunt, Francisco Santos Gonzalez, Sebastian Lunke, et al.
Page
of 12