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Steve Laurie

Showing results (1-10 of 16) with videos related to

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Molecular Biology and Evolution|April 30, 2013
Accelerated evolution after gene duplication: a time-dependent process affecting just one copyCinta Pegueroles, Steve Laurie, M Mar Albà
Molecular Biology and Evolution|August 7, 2010
Lineage-specific variation in intensity of natural selection in mammalsMacarena Toll-Riera, Steve Laurie, M Mar Albà
Genome Biology and Evolution|February 5, 2013
Improving genome-wide scans of positive selection by using protein isoforms of similar lengthJosé Luis Villanueva-Cañas, Steve Laurie, M Mar Albà
Genome Research|December 1, 2011
Sequence shortening in the rodent ancestorSteve Laurie, Macarena Toll-Riera, Núria Radó-Trilla, et al.
European Journal of Medical Genetics|December 5, 2021
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variantElke de Boer, Burcu Yaldiz, Anne-Sophie Denommé-Pichon, et al.
Genes|December 24, 2021
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of CoverageFrancesco Musacchia, Marianthi Karali, Annalaura Torella, et al.
Journal of Neurology|July 14, 2020
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletionGrace McMacken, Hanns Lochmüller, Boglarka Bansagi, et al.
Human Mutation|September 9, 2016
From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome SequencingSteve Laurie, Marcos Fernandez-Callejo, Santiago Marco-Sola, et al.
Molecular Genetics & Genomic Medicine|December 15, 2018
Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndromeCinthia Aguilera, Elisabeth Gabau, Steve Laurie, et al.
Brain Communications|March 21, 2022
New spinocerebellar ataxia subtype caused by <i>SAMD9L</i> mutation triggering mitochondrial dysregulation (SCA49)Marc Corral-Juan, Pilar Casquero, Natalia Giraldo-Restrepo, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Molecular Biology and Evolution|April 30, 2013
Accelerated evolution after gene duplication: a time-dependent process affecting just one copyCinta Pegueroles, Steve Laurie, M Mar Albà
Molecular Biology and Evolution|August 7, 2010
Lineage-specific variation in intensity of natural selection in mammalsMacarena Toll-Riera, Steve Laurie, M Mar Albà
Genome Biology and Evolution|February 5, 2013
Improving genome-wide scans of positive selection by using protein isoforms of similar lengthJosé Luis Villanueva-Cañas, Steve Laurie, M Mar Albà
Genome Research|December 1, 2011
Sequence shortening in the rodent ancestorSteve Laurie, Macarena Toll-Riera, Núria Radó-Trilla, et al.
European Journal of Medical Genetics|December 5, 2021
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variantElke de Boer, Burcu Yaldiz, Anne-Sophie Denommé-Pichon, et al.
Genes|December 24, 2021
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of CoverageFrancesco Musacchia, Marianthi Karali, Annalaura Torella, et al.
Journal of Neurology|July 14, 2020
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletionGrace McMacken, Hanns Lochmüller, Boglarka Bansagi, et al.
Human Mutation|September 9, 2016
From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome SequencingSteve Laurie, Marcos Fernandez-Callejo, Santiago Marco-Sola, et al.
Molecular Genetics & Genomic Medicine|December 15, 2018
Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndromeCinthia Aguilera, Elisabeth Gabau, Steve Laurie, et al.
Brain Communications|March 21, 2022
New spinocerebellar ataxia subtype caused by <i>SAMD9L</i> mutation triggering mitochondrial dysregulation (SCA49)Marc Corral-Juan, Pilar Casquero, Natalia Giraldo-Restrepo, et al.
Pageof 2