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Clinical Chemistry
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November 14, 2022
A Comprehensive Assay for Resolving Repeat Expansions to the Base Pair
Erik-Jan Kamsteeg, Christian Gilissen
Human Genetics
|
April 15, 2016
Novel bioinformatic developments for exome sequencing
Stefan H Lelieveld, Joris A Veltman, Christian Gilissen
Nature Reviews. Genetics
|
October 28, 2015
Genetic studies in intellectual disability and related disorders
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman
Genome Biology
|
September 17, 2011
Unlocking Mendelian disease using exome sequencing
Christian Gilissen, Alexander Hoischen, Han G Brunner, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2012
Disease gene identification strategies for exome sequencing
Christian Gilissen, Alexander Hoischen, Han G Brunner, et al.
Human Mutation
|
August 18, 2017
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics
Laurens Wiel, Hanka Venselaar, Joris A Veltman, et al.
Human Mutation
|
May 15, 2015
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions
Stefan H Lelieveld, Malte Spielmann, Stefan Mundlos, et al.
Nature Human Behaviour
|
May 15, 2025
Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants
Hila Fridman, Gelana Khazeeva, Ephrat Levy-Lahad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 27, 2019
Accurate detection of clinically relevant uniparental disomy from exome sequencing data
Kevin Yauy, Nicole de Leeuw, Helger G Yntema, et al.
Pediatric Neurology
|
March 23, 2019
TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery
Dulika Sumathipala, Petter Strømme, Christian Gilissen, et al.
Page
of 26
Search research articles
Search
Showing results (1-10 of 254) with videos related to
Sort By:
Page
of 26
Clinical Chemistry
|
November 14, 2022
A Comprehensive Assay for Resolving Repeat Expansions to the Base Pair
Erik-Jan Kamsteeg, Christian Gilissen
Human Genetics
|
April 15, 2016
Novel bioinformatic developments for exome sequencing
Stefan H Lelieveld, Joris A Veltman, Christian Gilissen
Nature Reviews. Genetics
|
October 28, 2015
Genetic studies in intellectual disability and related disorders
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman
Genome Biology
|
September 17, 2011
Unlocking Mendelian disease using exome sequencing
Christian Gilissen, Alexander Hoischen, Han G Brunner, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2012
Disease gene identification strategies for exome sequencing
Christian Gilissen, Alexander Hoischen, Han G Brunner, et al.
Human Mutation
|
August 18, 2017
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics
Laurens Wiel, Hanka Venselaar, Joris A Veltman, et al.
Human Mutation
|
May 15, 2015
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions
Stefan H Lelieveld, Malte Spielmann, Stefan Mundlos, et al.
Nature Human Behaviour
|
May 15, 2025
Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants
Hila Fridman, Gelana Khazeeva, Ephrat Levy-Lahad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 27, 2019
Accurate detection of clinically relevant uniparental disomy from exome sequencing data
Kevin Yauy, Nicole de Leeuw, Helger G Yntema, et al.
Pediatric Neurology
|
March 23, 2019
TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery
Dulika Sumathipala, Petter Strømme, Christian Gilissen, et al.
Page
of 26