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Plos Genetics
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October 24, 2007
Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies
Xavier Estivill, Lluís Armengol
BMC Genomics
|
December 2, 2008
ProSeeK: a web server for MLPA probe design
Lorena Pantano, Lluís Armengol, Sergi Villatoro, et al.
BMC Bioinformatics
|
June 21, 2011
MLPAstats: an R GUI package for the integrated analysis of copy number alterations using MLPA data
Alejandro Cáceres, Lluís Armengol, Sergi Villatoro, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2010
Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32)
Irene Mademont-Soler, Carme Morales, Lluís Armengol, et al.
Gene
|
July 8, 2008
Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds
Nina Bosch, Geòrgia Escaramís, Josep M Mercader, et al.
European Journal of Human Genetics : EJHG
|
March 16, 2002
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons
Miguel Angel Pujana, Marga Nadal, Miriam Guitart, et al.
Plos One
|
December 17, 2009
Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism
Nina Bosch, Marta Morell, Immaculada Ponsa, et al.
Genetic Epidemiology
|
January 30, 2008
Maximizing association statistics over genetic models
Juan R González, Josep L Carrasco, Frank Dudbridge, et al.
BMC Bioinformatics
|
June 9, 2009
Accounting for uncertainty when assessing association between copy number and disease: a latent class model
Juan R González, Isaac Subirana, Geòrgia Escaramís, et al.
American Journal of Medical Genetics. Part A
|
May 22, 2025
Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19
Marta Carreño-Hidalgo, Raquel Muñoz-Siles, Vanesa López-González, et al.
Page
of 5
Search research articles
Search
Showing results (1-10 of 50) with videos related to
Sort By:
Page
of 5
Plos Genetics
|
October 24, 2007
Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies
Xavier Estivill, Lluís Armengol
BMC Genomics
|
December 2, 2008
ProSeeK: a web server for MLPA probe design
Lorena Pantano, Lluís Armengol, Sergi Villatoro, et al.
BMC Bioinformatics
|
June 21, 2011
MLPAstats: an R GUI package for the integrated analysis of copy number alterations using MLPA data
Alejandro Cáceres, Lluís Armengol, Sergi Villatoro, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2010
Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32)
Irene Mademont-Soler, Carme Morales, Lluís Armengol, et al.
Gene
|
July 8, 2008
Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds
Nina Bosch, Geòrgia Escaramís, Josep M Mercader, et al.
European Journal of Human Genetics : EJHG
|
March 16, 2002
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons
Miguel Angel Pujana, Marga Nadal, Miriam Guitart, et al.
Plos One
|
December 17, 2009
Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism
Nina Bosch, Marta Morell, Immaculada Ponsa, et al.
Genetic Epidemiology
|
January 30, 2008
Maximizing association statistics over genetic models
Juan R González, Josep L Carrasco, Frank Dudbridge, et al.
BMC Bioinformatics
|
June 9, 2009
Accounting for uncertainty when assessing association between copy number and disease: a latent class model
Juan R González, Isaac Subirana, Geòrgia Escaramís, et al.
American Journal of Medical Genetics. Part A
|
May 22, 2025
Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19
Marta Carreño-Hidalgo, Raquel Muñoz-Siles, Vanesa López-González, et al.
Page
of 5