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Medicine
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March 12, 2019
Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report
Nereida Bravo-Gil, Irene Marcos, Antonio González-Meneses, et al.
Plos One
|
December 30, 2014
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies
María González-del Pozo, Cristina Méndez-Vidal, Nereida Bravo-Gil, et al.
BMC Genetics
|
December 16, 2014
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree
Cristina Méndez-Vidal, Nereida Bravo-Gil, María González-Del Pozo, et al.
International Journal of Molecular Sciences
|
February 10, 2024
Delving into the Role of lncRNAs in Papillary Thyroid Cancer: Upregulation of LINC00887 Promotes Cell Proliferation, Growth and Invasion
Cristina Tous, Carmen Muñoz-Redondo, Angela Gavilán, et al.
Scientific Reports
|
February 4, 2017
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
Nereida Bravo-Gil, María González-Del Pozo, Marta Martín-Sánchez, et al.
International Journal of Molecular Sciences
|
May 13, 2023
Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing
Cristina Tous, Carmen Muñoz-Redondo, Nereida Bravo-Gil, et al.
American Journal of Medical Genetics. Part A
|
April 1, 2015
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F
María González-Del Pozo, Nereida Bravo-Gil, Cristina Méndez-Vidal, et al.
Scientific Reports
|
April 2, 2016
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
Nereida Bravo-Gil, Cristina Méndez-Vidal, Laura Romero-Pérez, et al.
Biomolecules
|
February 24, 2024
Bioinformatics Prediction for Network-Based Integrative Multi-Omics Expression Data Analysis in Hirschsprung Disease
Helena Lucena-Padros, Nereida Bravo-Gil, Cristina Tous, et al.
Scientific Reports
|
September 8, 2018
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
María González-Del Pozo, Marta Martín-Sánchez, Nereida Bravo-Gil, et al.
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Search research articles
Search
Showing results (1-10 of 17) with videos related to
Sort By:
Page
of 2
Medicine
|
March 12, 2019
Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report
Nereida Bravo-Gil, Irene Marcos, Antonio González-Meneses, et al.
Plos One
|
December 30, 2014
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies
María González-del Pozo, Cristina Méndez-Vidal, Nereida Bravo-Gil, et al.
BMC Genetics
|
December 16, 2014
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree
Cristina Méndez-Vidal, Nereida Bravo-Gil, María González-Del Pozo, et al.
International Journal of Molecular Sciences
|
February 10, 2024
Delving into the Role of lncRNAs in Papillary Thyroid Cancer: Upregulation of LINC00887 Promotes Cell Proliferation, Growth and Invasion
Cristina Tous, Carmen Muñoz-Redondo, Angela Gavilán, et al.
Scientific Reports
|
February 4, 2017
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
Nereida Bravo-Gil, María González-Del Pozo, Marta Martín-Sánchez, et al.
International Journal of Molecular Sciences
|
May 13, 2023
Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing
Cristina Tous, Carmen Muñoz-Redondo, Nereida Bravo-Gil, et al.
American Journal of Medical Genetics. Part A
|
April 1, 2015
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F
María González-Del Pozo, Nereida Bravo-Gil, Cristina Méndez-Vidal, et al.
Scientific Reports
|
April 2, 2016
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
Nereida Bravo-Gil, Cristina Méndez-Vidal, Laura Romero-Pérez, et al.
Biomolecules
|
February 24, 2024
Bioinformatics Prediction for Network-Based Integrative Multi-Omics Expression Data Analysis in Hirschsprung Disease
Helena Lucena-Padros, Nereida Bravo-Gil, Cristina Tous, et al.
Scientific Reports
|
September 8, 2018
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
María González-Del Pozo, Marta Martín-Sánchez, Nereida Bravo-Gil, et al.
Page
of 2