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المؤلفون: Stanislas Lyonnet, Joaquín Dopazo, Francesca Lantieri, Claude Besmond, Raquel M. Fernández, Guillermo Antiñolo, Marta Bleda, Berta Luzón-Toro, Robert M.W. Hofstra, Stacey Arnold, Isabella Ceccherini, Yunia Sribudiani, Luz Garcia-Alonso, Aravinda Chakravarti, Salud Borrego, Betty Q. Doan
المساهمون: Department of Genetics, Reproduction and Fetal Medicine, Universidad de Sevilla-Institute of Biomedicine of Seville (IBIS)-Hospital Universitario Virgen del Rocío [Sevilla], Centre for Biomedical Network Research on Rare Diseases (CIBERER), Department of Computational Genomics, Centro de Investigación Príncipe Felipe (CIPF), Center for Complex Disease Genomics, Johns Hopkins University School of Medicine-McKusick-Nathans Institute of Genetic Medicine, Department of Medical Genetics, University of Groningen [Groningen], Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratorio di Genetica Molecolare, Istituto Gaslini, Functional Genomics Node (INB), This work was supported by the Instituto de Salud Carlos III (ISCIII), Spanish Ministry of Economy and Competitiveness, Spain (PI1001290), Spanish Ministry of Economy and Competitiveness (BIO2011-27069), GVA-FEDER (PROMETEO/2010/001) and Consejeria de Innovación Ciencia y Empresa de la Junta de Andalucia (CTS-7447). The CIBER de Enfermedades Raras is an initiative of the ISCIII, Spanish Ministry of Economy and Competitiveness. LG-A is supported by fellowship PFIS FI10/00020 from the ISCIII., BMC, Ed., Universidad de Sevilla / University of Sevilla-Institute of Biomedicine of Seville (IBIS)-Hospital Universitario Virgen del Rocío [Sevilla], Universidad de Sevilla. Departamento de Cirugía, Universidad de Sevilla-Hospital Universitario Virgen del Rocío [Sevilla]-Institute of Biomedicine of Seville (IBIS), Universidad de Sevilla-University Hospital Virgen del Rocio-Institute of Biomedicine of Seville (IBIS), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), CIPF
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Orphanet Journal of Rare Diseases
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.187. ⟨10.1186/1750-1172-8-187⟩
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.187. ⟨10.1186/1750-1172-8-187⟩
idUS: Depósito de Investigación de la Universidad de Sevilla
Universidad de Sevilla (US)
idUS. Depósito de Investigación de la Universidad de Sevilla
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.187. 〈10.1186/1750-1172-8-187〉
Orphanet journal of rare diseases, 8:187. BMCمصطلحات موضوعية: Male, genetics/metabolism, Genome-wide association study, Disease, [SDV.GEN] Life Sciences [q-bio]/Genetics, VARIANTS, 0302 clinical medicine, Polymorphism (computer science), Genotype, Genetics(clinical), Pharmacology (medical), genetics, SUSCEPTIBILITY LOCUS, Hirschsprung's disease, Genetics (clinical), Genetics, Medicine(all), RISK, 0303 health sciences, Pathway-Based Analysis, General Medicine, Single Nucleotide, 3. Good health, Hirschsprung’s disease, Female, Genetic Predisposition to Disease, Genotype, Hirschsprung Disease, genetics/metabolism, Humans, Male, Polymorphism, Female, SET, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, PROTEIN-INTERACTION NETWORK, medicine, Humans, Genetic Predisposition to Disease, Hirschsprung Disease, Polymorphism, GENOME-WIDE ASSOCIATION, Gene, COMMON, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Research, medicine.disease, GENE, Human genetics, DNA binding site, MODEL, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, RET, 030217 neurology & neurosurgery
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