المؤلفون: Mónica Fernández-Cancio, María Antolín, María Clemente, Ariadna Campos-Martorell, Eduard Mogas, Noelia Baz-Redón, Jordi Leno-Colorado, Gemma Comas-Armangué, Elena García-Arumí, Laura Soler-Colomer, Núria González-Llorens, Núria Camats-Tarruella, Diego Yeste

المصدر: Frontiers in Endocrinology, Vol 15 (2024)

مصطلحات موضوعية: congenital hypothyroidism, thyroid dyshormonogenesis, thyroglobulin, TG, gene variant, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2024.1367808/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/488622cb30184b09bcb312808aad3740

المؤلفون: Ieva Keraite, Philipp Becker, Davide Canevazzi, Cristina Frias-López, Marc Dabad, Raúl Tonda-Hernandez, Ida Paramonov, Matthew John Ingham, Isabelle Brun-Heath, Jordi Leno, Anna Abulí, Elena Garcia-Arumí, Simon Charles Heath, Marta Gut, Ivo Glynne Gut

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/5509dd67c124407290bff7e8473a500c

المؤلفون: Lino C. Ramírez-Ayala, Dominique Rocha, Sebas E. Ramos-Onsins, Jordi Leno-Colorado, Mathieu Charles, Olivier Bouchez, Yoel Rodríguez-Valera, Miguel Pérez-Enciso, Yuliaxis Ramayo-Caldas

المصدر: Genetics Selection Evolution, Vol 53, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Animal culture, SF1-1100, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1297-9686

URL الوصول: https://doaj.org/article/cc0f0b230ddb4a5ab6ea9018ed9fc69d

المؤلفون: Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina-Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José M. Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cuscó, Eduardo F. Tizzano

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 15, p 8289 (2022)

مصطلحات موضوعية: spinal muscular atrophy, SMN2 copies, phenotype–genotype correlations, positive modifiers, next-generation sequencing, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/23/15/8289; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/710b935333e94d279a284a123d4aec27

المؤلفون: Jordi Leno-Colorado, Nick J. Hudson, Antonio Reverter, Miguel Pérez-Enciso

المصدر: G3: Genes, Genomes, Genetics, Vol 7, Iss 7, Pp 2171-2184 (2017)

مصطلحات موضوعية: behavior, domestication, pathway analysis, pig, genome sequence data, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2160-1836

URL الوصول: https://doaj.org/article/e8a4fcf98b2a4d7dae4df097e01829a9

المؤلفون: Marta Codina-Solà, Laura Trujillano, Anna Abulí, Eulàlia Rovira-Moreno, Patricia Muñoz-Cabello, Berta Campos, Paula Fernández-Álvarez, Dolors Palau, Estela Carrasco, Irene Valenzuela, Anna Maria. Cueto-González, Amaia Lasa-Aranzasti, Javier Limeres, Jordi Leno-Colorado, Mar Costa-Roger, Alejandro Moles-Fernández, Judith Balmaña, Orland Díez, Ivon Cuscó, Elena Garcia-Arumí, Eduardo Fidel Tizzano

المصدر: European Journal of Human Genetics. 31:223-230

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd06709fa3180f7d1f259fd866df2a46
https://doi.org/10.1038/s41431-022-01240-5

المؤلفون: Eduardo F. Tizzano, Ivon Cuscó, Laura Blasco-Pérez, Sara Bernal, Jordi Leno, Ida Paramonov, Laura Alias, Pablo Fuentes-Prior

المصدر: Human Mutation
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: SMN2 copies, DNA Copy Number Variations, Genotype, DNA Mutational Analysis, phenotype–, Gene Dosage, genotype correlations, next‐generation sequencing, Phenotype-genotype correlations, Computational biology, Disease, SMN1, Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, DNA sequencing, law.invention, Muscular Atrophy, Spinal, 03 medical and health sciences, law, generation sequencing, Genetics, medicine, Methods, paralogous variants, Humans, Gene, Genetics (clinical), Polymerase chain reaction, Genetic Association Studies, 030304 developmental biology, phenotype–genotype correlations, spinal muscular atrophy, 0303 health sciences, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Spinal muscular atrophy, medicine.disease, SMA, Phenotype, Survival of Motor Neuron 1 Protein, nervous system diseases, Survival of Motor Neuron 2 Protein, next‐, Next-generation sequencing

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efc2e2956237942ba042acd0da8f4ab7
http://europepmc.org/articles/PMC8252042

المؤلفون: Ieva Keraite, Philipp Becker, Davide Canevazzi, Maria C. Frias-López, Marc Dabad, Raúl Tonda-Hernandez, Ida Paramonov, Matthew John Ingham, Isabelle Brun-Heath, Jordi Leno, Anna Abulí, Elena Garcia-Arumí, Simon Heath, Marta Gut, Ivo Glynne Gut

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3f45f0caafebd7057ec3f12a78151ba7
https://doi.org/10.1101/2022.02.08.479581

المؤلفون: Sebas E. Ramos-Onsins, Yoel Rodríguez-Valera, Lino C. Ramírez-Ayala, Jordi Leno-Colorado, Mathieu Charles, Yuliaxis Ramayo-Caldas, Miguel Pérez-Enciso, Dominique Rocha, Olivier Bouchez

المساهمون: Centre for Research in Agricultural Genomics (CRAG), Génétique Animale et Biologie Intégrative (GABI), Université Paris-Saclay-AgroParisTech-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Système d'Information des GENomes des Animaux d'Elevage (SIGENAE), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Universidad de Granma (UDG), Institució Catalana de Recerca i Estudis Avançats (ICREA), Institute of Agrifood Research and Technology (IRTA), MINECO AGL2016-78709-R, European Commission BFU2016-77236-P, Centro de Excelencia Severo Ochoa 2016-2019 SEV-2015-0533, Animal Genetics Division of INRAE as part of the CHACUBA project, France Embassy in Havana (Cuba), 'Don Carlos Antonio Lopez' Graduate program (BECAL) from Paraguay, European Project: 6655919,P-Sphere, Ministerio de Economía y Competitividad (España), Programa Nacional de Becas de Postgrado en el Exterior 'Don Carlos Antonio López' (Paraguay), European Commission, l’Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (France), Agencia Estatal de Investigación (España), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Producció Animal, Genètica i Millora Animal, AgroParisTech-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut de Recerca i Tecnologia Agroalimentàries = Institute of Agrifood Research and Technology (IRTA)

المصدر: Genetics Selection Evolution
Genetics Selection Evolution, BioMed Central, 2021, 53 (1), pp.3. ⟨10.1186/s12711-020-00597-9⟩
Digital.CSIC. Repositorio Institucional del CSIC
instname
Genetics Selection Evolution, Vol 53, Iss 1, Pp 1-11 (2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Genetics, Selection, Evolution : GSE
Genetics Selection Evolution, 2021, 53 (1), pp.3. ⟨10.1186/s12711-020-00597-9⟩
IRTA Pubpro. Open Digital Archive
Institut de Recerca i Tecnologia Agroalimentàries (IRTA)

مصطلحات موضوعية: Thermotolerance, Genotype, lcsh:QH426-470, [SDV]Life Sciences [q-bio], biology.animal_breed, Population, ved/biology.organism_classification_rank.species, Introgression, 03 medical and health sciences, CHFR, Genetics, Animals, Animal Fur, education, Ecology, Evolution, Behavior and Systematics, lcsh:SF1-1100, 030304 developmental biology, Tropical Climate, 0303 health sciences, education.field_of_study, Genetic diversity, Polymorphism, Genetic, Whole Genome Sequencing, biology, ved/biology, Taurine cattle, Homozygote, Haplotype, 0402 animal and dairy science, Thermogenesis, 04 agricultural and veterinary sciences, General Medicine, 040201 dairy & animal science, lcsh:Genetics, Haplotypes, Evolutionary biology, Cattle, Animal Science and Zoology, lcsh:Animal culture, Adaptation, Charolais cattle, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05463a10b421eed3df15674c88a51a07
https://hal.archives-ouvertes.fr/hal-03105253/file/12711_2020_Article_597.pdf

المؤلفون: Miguel Pérez-Enciso, Jordi Leno-Colorado, Sara Guirao-Rico, Sebastian E. Ramos-Onsins

مصطلحات موضوعية: Nonsynonymous substitution, Genetics, Quantitative trait locus, Biology, Approximate Bayesian computation, Domestication, Phenotype, Gene, Genome, Breed

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f45d5cd6a682a532025b26285bdc79d9
https://doi.org/10.1101/2020.09.09.289439