المؤلفون: Mario Burgui Burgui, Paloma Ibarra Benlloch, María Teresa Echeverría Arnedo

المصدر: Boletín de la Asociación de Geógrafos Españoles, Vol 0, Iss 78, Pp 444-473 (2018)

مصطلحات موضوعية: Environmental sciences, GE1-350, Geography (General), G1-922

وصف الملف: electronic resource

Relation: https://www.age-geografia.es/ojs/index.php/bage/article/view/2720; https://doaj.org/toc/0212-9426; https://doaj.org/toc/2605-3322

URL الوصول: https://doaj.org/article/5f4ed315cf48486ba0f3bc50554060e5

المؤلفون: Juan Pié, Lynne M. Kerr, Antonie D. Kline, Beatriz Puisac, Sylvia A. Huisman, Feliciano J. Ramos, María Teresa Echeverría Arnedo, Isabel Benavente, Pilar Pamplona, Ana Latorre-Pellicer, Maria Haddad, Maria Jesus Pablo, Gloria Bueno-Lozano, Frank J. Kaiser, Laura Trujillano

المصدر: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Premature aging, Small fiber nerve, medicine.medical_specialty, Cornelia de Lange Syndrome, Peripheral neuropathy, Medizin, Cell Cycle Proteins, Sudomotor test, Sweat gland density, Autonomic Nervous System, Autonomic neuropathy, Internal medicine, De Lange Syndrome, medicine, Humans, Pharmacology (medical), Genetics (clinical), CdLS, NIPBL gene, business.industry, Research, General Medicine, medicine.disease, Somatic nervous system, Sudomotor, Autonomic nervous system, medicine.anatomical_structure, Phenotype, Peripheral nervous system, Mutation, Cardiology, Medicine, business, Sensory nerve

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::185b1e91837fb1c13315b8e785970085
https://doi.org/10.21203/rs.3.rs-534763/v1

المؤلفون: Iñigo Marcos-Alcalde, Axel Weber, Cristina Lucia-Campos, Ariadna Ayerza-Casas, Juan Pié, Feliciano J. Ramos, Gloria Bueno-Lozano, Katharina Khuller, María Teresa Echeverría Arnedo, Angelo Selicorni, Ilaria Parenti, Laura Trujillano, Marta Gil-Salvador, Milena Mariani, Paulino Gómez-Puertas, Rebeca Antoñanzas-Pérez, Ana Latorre-Pellicer, Beatriz Puisac, Ángela Ascaso, Cristina Gervasini, Frank J. Kaiser, Martin Munteanu, Maria Piccione, Alma Kuechler, Deniz Kanber

المساهمون: Latorre-Pellicer A., Gil-Salvador M., Parenti I., Lucia-Campos C., Trujillano L., Marcos-Alcalde I., Arnedo M., Ascaso A., Ayerza-Casas A., Antonanzas-Perez R., Gervasini C., Piccione M., Mariani M., Weber A., Kanber D., Kuechler A., Munteanu M., Khuller K., Bueno-Lozano G., Puisac B., Gomez-Puertas P., Selicorni A., Kaiser F.J., Ramos F.J., Pie J., Ministerio de Sanidad (España), Diputación General de Aragón

المصدر: DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Scientific Reports
Digital.CSIC. Repositorio Institucional del CSIC
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Adult, Male, Cornelia de Lange Syndrome, Adolescent, Adult, Cell Cycle Proteins, Child, Child, Preschool, Comparative Genomic Hybridization, De Lange Syndrome, Female, Gene Deletion, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Mosaicism, Mutation, Missense, Phenotype, Retrospective Studies, Spain, Young Adult, Adolescent, Somatic cell, Science, Genetic counseling, Medizin, Mutation, Missense, Diseases, Cell Cycle Proteins, Biology, Paediatric research, Germline, Article, 03 medical and health sciences, Negative selection, Young Adult, Medical research, De Lange Syndrome, Genetics research, medicine, Missense mutation, Humans, Clinical significance, Child, 030304 developmental biology, Retrospective Studies, Genetics, 0303 health sciences, Comparative Genomic Hybridization, Multidisciplinary, Mosaicism, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, NIPBL, Middle Aged, medicine.disease, Phenotype, Settore MED/03 - Genetica Medica, Spain, Child, Preschool, Medicine, Female, Gene Deletion

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8f4e63f9800a7e33803fdefc6024789
https://hdl.handle.net/10641/2784

المؤلفون: Ariadna Ayerza-Casas, Rebeca Antoñanzas, Juan Pié, María Teresa Echeverría Arnedo, Marta Gil-Salvador, Ángela Ascaso, Beatriz Puisac, Iñigo Marcos-Alcalde, Paulino Gómez-Puertas, Cristina Lucia-Campos, Ana Latorre-Pellicer, Feliciano J. Ramos

المصدر: Molecular Genetics & Genomic Medicine
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instname
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)

مصطلحات موضوعية: Genetics, media_common.quotation_subject, Genetic variants, Cell Cycle Proteins, NIPBL, QH426-470, Phenotype, Repressor Proteins, De Lange Syndrome, Humans, Girl, Letters to the Editor, Psychology, Letter to the Editor, Molecular Biology, Genetics (clinical), media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a53f3dab6f47c6cbd9eca7f7ced335f8
https://hdl.handle.net/10641/2877

المؤلفون: Marcos Antonio Leite do Nascimento, Edson Vicente da Silva, María Teresa Echeverría Arnedo, Suedio Alves Meira

المصدر: Caderno de Geografia. 30:788

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9f8428ace4aec93ae0074e23ccf50aa9
https://doi.org/10.5752/p.2318-2962.2020v30n62p788

المؤلفون: Paloma Ibarra Benlloch, María Teresa Echeverría Arnedo, Mario Burgui Burgui

المصدر: Boletín de la Asociación de Geógrafos Españoles, Iss 78 (2018)
Boletín de la Asociación de Geógrafos Españoles, Vol 0, Iss 78, Pp 444-473 (2018)

مصطلحات موضوعية: lcsh:GE1-350, Geography (General), Geography, Planning and Development, lcsh:G1-922, Small island, Environmental Science (miscellaneous), Urban Studies, Environmental sciences, Geography, Ethnology, Landscape analysis, G1-922, GE1-350, lcsh:Environmental sciences, lcsh:Geography (General), Tourism, Earth-Surface Processes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::497f9fe5b3c451a8ef159f88e3db3f4a
https://bage.age-geografia.es/ojs/index.php/bage/article/view/2720

المؤلفون: Edson Vicente da Silva, Marcos Antonio Leite do Nascimento, María Teresa Echeverría Arnedo, Suedio Alves Meira

المصدر: Geosaberes. 11:162

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ea9117e95c14969dd0b343c45af39d50
https://doi.org/10.26895/geosaberes.v11i0.870

المؤلفون: Gloria Bueno-Lozano, Marta Gil-Salvador, Juan Pié, Ana Latorre-Pellicer, Cristina Lucia-Campos, María Teresa Echeverría Arnedo, Beatriz Puisac, Paulino Gómez-Puertas, Rebeca Antoñanzas-Pérez

المساهمون: Agencia Estatal de Investigación (España), Diputación General de Aragón, European Commission, Ministerio de Ciencia, Innovación y Universidades (España)

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
International Journal of Molecular Sciences

مصطلحات موضوعية: HMGCLL1, Review, Catalysis, Evolution, Molecular, Inorganic Chemistry, Cytosol, 3-hydroxy-3-methylglutaric aciduria, Ketogenesis, Peroxisomes, Humans, Physical and Theoretical Chemistry, Lyase activity, Molecular Biology, Spectroscopy, chemistry.chemical_classification, HMG-CoA lyase, Chemistry, Endoplasmic reticulum, Organic Chemistry, Oxo-Acid-Lyases, HMGCL, General Medicine, Peroxisome, Lyase, Mitochondria, Computer Science Applications, Isoenzymes, Enzyme, Liver, Biochemistry, ketone bodies, Ketone bodies, Energy Metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f25343073c4286b53ef263c9ee01cea5
https://doi.org/10.3390/ijms20246124

المؤلفون: Mónica Ramos, Beatriz Puisac, Germaine Pierre, María Esperanza Teresa-Rodrigo, Gloria Bueno, Juan Pié, Sebastián Menao, Paulino Gómez-Puertas, María Concepción Gil-Rodríguez, Fausto G. Hegardt, María Teresa Echeverría Arnedo, María Hernández-Marcos, Uma Ramaswami, Carolina Baquero-Montoya, Cesar H. Casale

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
European Journal of Medical Genetics; Vol 56

مصطلحات موضوعية: Hydroxymethylglutaryl-CoA Synthase, Male, Models, Molecular, Mitochondrial Diseases, Protein Conformation, DNA Mutational Analysis, 0302 clinical medicine, Gene Order, Missense mutation, Genetics (clinical), chemistry.chemical_classification, 0303 health sciences, Mitochondrial HMG-CoA synthase deficiency, ATP synthase, medicine.diagnostic_test, Metabolic disorder, Exons, General Medicine, Bioquímica y Biología Molecular, 3. Good health, Liver biopsy, Deficiency, CIENCIAS NATURALES Y EXACTAS, Mutations, Mutation, Missense, Biology, Ciencias Biológicas, 03 medical and health sciences, Western blot, Genetics, medicine, Humans, Amino Acid Sequence, Gene, 030304 developmental biology, Base Sequence, Infant, medicine.disease, Molecular biology, Hypoglycemia, Enzyme assay, Enzyme Activation, Mitochondrial HMG-CoA synthase, Enzyme, chemistry, Mutation, Ketone bodies, biology.protein, Metabolism, Inborn Errors, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::181394c2efc41078b9bf9c06a73c7cfb
https://doi.org/10.1016/j.ejmg.2013.05.008

المؤلفون: Alfredo Ollero Ojeda, Daniel Ballarín Ferrer, Elena Díaz Bea, Daniel Mora Mur, Miguel Sánchez Fabre, Vanesa Acín Naverac, María Teresa Echeverría Arnedo, David Granado-García

المصدر: Limnetica. 27:171-188

مصطلحات موضوعية: Ecology, Aquatic Science, Water Science and Technology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::baae3fa4bb9fba31fa104b23912a0ae7
https://doi.org/10.23818/limn.27.14

المؤلفون: María Teresa Echeverría Arnedo

المصدر: Geographicalia. :11

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::854f6f2861488660d036ffd7e4a9c93a
https://doi.org/10.26754/ojs_geoph/geoph.198319-202015

المؤلفون: María Teresa Echeverría Arnedo

المصدر: Geographicalia. :75

مصطلحات موضوعية: Geography, Downstream (manufacturing), Geomorphology, Cartography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::209badab14c71103711c226f833c29f4
https://doi.org/10.26754/ojs_geoph/geoph.1989261907

المؤلفون: José Luis Peña Monné, Nicole Petit-Maire, Raymond Lafont, María Teresa Echeverría Arnedo

المصدر: Geographicalia. :321

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8647b0d635448bab81c0e64f50984dc3
https://doi.org/10.26754/ojs_geoph/geoph.1993301827

المؤلفون: Franciso Pellicer Corellano, María Teresa Echeverría Arnedo, Luis Cancer Pomar

المصدر: Geographicalia. :157

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::95105df54a0182b4ca697e977108c3e5
https://doi.org/10.26754/ojs_geoph/geoph.1994311775

المؤلفون: Celia Pérez-Cerdá, María Esperanza Teresa-Rodrigo, Antonia Ribes, María Concepción Gil-Rodríguez, Gloria Bueno, Angeles Pié, Beatriz Puisac, María Teresa Echeverría Arnedo, Juan Pié, Paulino Gómez-Puertas

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, RNA Splicing, Nonsense-mediated decay, Exonic splicing enhancer, Mutation, Missense, Biology, Biochemistry, Endocrinology, Genetics, Missense mutation, Humans, NMD, Acetyl-CoA C-Acetyltransferase, Molecular Biology, Exonic splicing silencer, Amino Acid Metabolism, Inborn Errors, Base Sequence, Alternative splicing, Sequence Analysis, DNA, HMGCL, HMG-CoA lyase deficiency, Molecular biology, Stop codon, Nonsense Mediated mRNA Decay, NAS, Codon, Nonsense, Child, Preschool, RNA splicing, Codon, Terminator, Female, Minigene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab3e0a25b175e0be95c775f8aea2accf
http://hdl.handle.net/10261/116854

المؤلفون: Miguel Sánchez Fabre, Daniel Ballarín Ferrer, María Teresa Echeverría Arnedo, Alfredo Ollero Ojeda, Virginia Auría Izquierdo, Daniel Mora Mur

المصدر: Geographicalia. :7

مصطلحات موضوعية: Hydrology, Geography, 010504 meteorology & atmospheric sciences, 0211 other engineering and technologies, Drainage network, 02 engineering and technology, 01 natural sciences, Humanities, 021101 geological & geomatics engineering, 0105 earth and related environmental sciences

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9587f04c1e58867ae49f9a67522ed9ea
https://doi.org/10.26754/ojs_geoph/geoph.2003441349

المؤلفون: Beatriz Puisac, Juan Pié, Feliciano J. Ramos, Ma Concepción Gil-Rodríguez, Mónica Ramos, Gloria Bueno, Angeles Pié, Esperanza Teresa, María Teresa Echeverría Arnedo, Paulino Gómez-Puertas

المصدر: Advances in the Study of Genetic Disorders

مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, ATP synthase, biology, business.industry, Chromosome, Disease, medicine.disease, Enzyme, Endocrinology, chemistry, Inborn error of metabolism, Internal medicine, medicine, biology.protein, Ketone bodies, Reye Syndrome, business, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4241bf6f317ac549b11676e5dfe45b2a
https://doi.org/10.5772/22151

المؤلفون: Juan Pié, Paulino Gómez-Puertas, Ma Concepción Gil-Rodríguez, Angeles Pié, María Teresa Echeverría Arnedo, Feliciano J. Ramos, Beatriz Puisac, Gloria Bueno, Esperanza Teresa

المصدر: Advances in the Study of Genetic Disorders

مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, Sudden infant death syndrome, Biology, Lyase, Endocrinology, Enzyme, medicine.anatomical_structure, chemistry, Internal medicine, Ketogenesis, medicine, Ketone bodies, Missense mutation, HMG-CoA Lyase Deficiency, Pancreas

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86910f0446db2b4d8c1684ccd944a36d
https://doi.org/10.5772/20252

المؤلفون: María Teresa Echeverría Arnedo, Mónica Ramos, Paulino Gómez-Puertas, Jan-Jaap Wesselink, Sebastián Menao, Beatriz Puisac, Juan Pié, Ignacio Gimenez, Fausto G. Hegardt, Angeles Pié, Juan C. de Karam, María Concepción Gil-Rodríguez, Feliciano J. Ramos, Núria Casals, María Esperanza Teresa-Rodrigo

المساهمون: Gobierno de Aragón, Universidad de Zaragoza, Ministerio de Educación y Ciencia (España), Instituto de Salud Carlos III, European Commission, Fundación Ramón Areces

المصدر: Molecular Biology Reports; Vol 39
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Hydroxymethylglutaryl-CoA Synthase, Blotting, Western, Ketone Bodies, Biology, Mitochondrion, Real-Time Polymerase Chain Reaction, Isozyme, Protein Structure, Secondary, 03 medical and health sciences, Exon, 0302 clinical medicine, Ketogenesis, Genetics, Humans, splice, Molecular Biology, Gene, 030304 developmental biology, 0303 health sciences, Alternative splicing, Computational Biology, Oxo-Acid-Lyases, HMGCL, General Medicine, Lyase, Molecular biology, Biosynthetic Pathways, Mitochondria, Isoenzymes, Alternative Splicing, HEK293 Cells, Biochemistry, Ketone bodies, HMGCS2, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5975abd37cbfb347de72d73a6efdb87
https://pubmed.ncbi.nlm.nih.gov/21952825

المؤلفون: Eduardo López-Viñas, Beatriz Puisac, Antonio Baldellou, Fausto G. Hegardt, Matthew A. Deardorff, Jesús Legarreta, Juan C. de Karam, Ian D. Krantz, Juan Pié, Milagros Ciero, Inés Bueno, María Concepción Gil-Rodríguez, María Teresa Echeverría Arnedo, Encarnación Rubio, Feliciano J. Ramos, Ana Losada, Paulino Gómez-Puertas, Núria Casals, María Pilar Ribate, Mª Teresa Calvo, José L. Olivares

مصطلحات موضوعية: Male, Cornelia de Lange Syndrome, Cohesin complex, Genotype, Chromosomal Proteins, Non-Histone, Cell Cycle Proteins, SMC1A, Biology, medicine.disease_cause, Article, Cohort Studies, De Lange Syndrome, Genetics, medicine, Humans, Allele, Genetics (clinical), Alleles, Mutation, Proteins, NIPBL, medicine.disease, Phenotype, Chondroitin Sulfate Proteoglycans, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2441c0ea76af1bde9e629e8d71925d29
https://europepmc.org/articles/PMC2923429/