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European Journal of Human Genetics : EJHG
|
February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
Gregory Costain, Rebekah Jobling, Susan Walker, et al.
Infection
|
April 13, 2016
Strategies to enhance rational use of antibiotics in hospital: a guideline by the German Society for Infectious Diseases
K de With, F Allerberger, S Amann, et al.
Human Genetics
|
March 12, 2014
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
Lina Basel-Vanagaite, Rüstem Yilmaz, Sha Tang, et al.
Human Genetics
|
November 15, 2022
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing
Qiliang Ding, Cherith Somerville, Roozbeh Manshaei, et al.
Leukemia
|
July 1, 2017
An atlas of bloodstream-accessible bone marrow proteins for site-directed therapy of acute myeloid leukemia
L Angenendt, S Reuter, D Kentrup, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2018
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
Miriam S Reuter, Rebekah Jobling, Rajiv R Chaturvedi, et al.
Epilepsia
|
March 14, 2025
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy
Marlene Rong, Paula T Marques, Quratulain Zulfiqar Ali, et al.
Frontiers in Genetics
|
October 28, 2020
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences
Roozbeh Manshaei, Daniele Merico, Miriam S Reuter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2020
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
Miriam S Reuter, Rajiv R Chaturvedi, Eriskay Liston, et al.
Frontiers in Genetics
|
December 18, 2020
A Distributed Whole Genome Sequencing Benchmark Study
Richard D Corbett, Robert Eveleigh, Joe Whitney, et al.
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Search research articles
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Showing results (141-150 of 172) with videos related to
Sort By:
Page
of 18
European Journal of Human Genetics : EJHG
|
February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
Gregory Costain, Rebekah Jobling, Susan Walker, et al.
Infection
|
April 13, 2016
Strategies to enhance rational use of antibiotics in hospital: a guideline by the German Society for Infectious Diseases
K de With, F Allerberger, S Amann, et al.
Human Genetics
|
March 12, 2014
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
Lina Basel-Vanagaite, Rüstem Yilmaz, Sha Tang, et al.
Human Genetics
|
November 15, 2022
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing
Qiliang Ding, Cherith Somerville, Roozbeh Manshaei, et al.
Leukemia
|
July 1, 2017
An atlas of bloodstream-accessible bone marrow proteins for site-directed therapy of acute myeloid leukemia
L Angenendt, S Reuter, D Kentrup, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2018
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
Miriam S Reuter, Rebekah Jobling, Rajiv R Chaturvedi, et al.
Epilepsia
|
March 14, 2025
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy
Marlene Rong, Paula T Marques, Quratulain Zulfiqar Ali, et al.
Frontiers in Genetics
|
October 28, 2020
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences
Roozbeh Manshaei, Daniele Merico, Miriam S Reuter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2020
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
Miriam S Reuter, Rajiv R Chaturvedi, Eriskay Liston, et al.
Frontiers in Genetics
|
December 18, 2020
A Distributed Whole Genome Sequencing Benchmark Study
Richard D Corbett, Robert Eveleigh, Joe Whitney, et al.
Page
of 18