المؤلفون: Massimo Mannelli, Alberto Cascón, Aguirre A. de Cubas, Álvaro Gómez-Graña, Carmen Bernal, Iñaki Comino-Méndez, César L. Ramírez-Tortosa, Alessandra Bacca, Veronika Mancikova, Guillermoó Pita, Cristina Rodríguez-Antona, Elena Rapizzi, Susana Pedrinaci, Mercedes Robledo, Giampaolo Bernini, Carolina Sánchez-Malo, Cristina Álvarez-Escolá, Tonino Ercolino, Luis J Leandro-García, María R Alonso, Lucía Inglada-Pérez, Rocío Letón

المصدر: Human Molecular Genetics; Vol 22

مصطلحات موضوعية: Adult, Male, Adolescent, Somatic cell, Egl Nine Homolog 1, Single-nucleotide polymorphism, Pheochromocytoma, Polycythemia, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Paraganglioma, Genetics, medicine, Basic Helix-Loop-Helix Transcription Factors, Humans, Protein Interaction Domains and Motifs, Amino Acid Sequence, Hypoxia, Molecular Biology, Gene, Genetics (clinical), 030304 developmental biology, Aged, Chromosome Aberrations, Paraganglioma, Extra-Adrenal, 0303 health sciences, EPAS1, General Medicine, Middle Aged, medicine.disease, 3. Good health, Gene Expression Regulation, Neoplastic, Hypoxia-inducible factors, 030220 oncology & carcinogenesis, Chromosomes, Human, Pair 2, Mutation, Cancer research, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13467d2094a5bedca0e40bb1b48ca775Test

المؤلفون: Juliet Reid, Lluís Espinosa, Ted Cook, Elena Galea, Alistair McLaren, Ekaterina V. Ilieva, Aurora Pujol, Stéphane Fourcade, Fiona Kelly, Stewart Bates, Agatha Schlüter, Eva López, Jorge Galino, Laia Morató, Patrick Aubourg, Muriel Asheuer

المصدر: Human Molecular Genetics
Human Molecular Genetics; Vol 21

مصطلحات موضوعية: Leptin, Gene Expression, ATP Binding Cassette Transporter, Subfamily D, Member 1, Oxidative Phosphorylation, Mice, 0302 clinical medicine, Insulin, Adrenoleukodystrophy, Child, Genetics (clinical), 0303 health sciences, biology, Neurodegeneration, Fatty Acids, Toll-Like Receptors, NF-kappa B, Brain, General Medicine, Articles, Peroxisome, 3. Good health, I-kappa B Kinase, medicine.anatomical_structure, Spinal Cord, Disease Progression, Adiponectin, medicine.symptom, Signal transduction, Metabolic Networks and Pathways, Signal Transduction, Adult, medicine.medical_specialty, endocrine system, Central nervous system, Inflammation, 03 medical and health sciences, Adipokines, Internal medicine, Genetics, medicine, Animals, Humans, Molecular Biology, Loss function, Genetic Association Studies, 030304 developmental biology, Gene Expression Profiling, medicine.disease, Biosynthetic Pathways, Insulin receptor, Disease Models, Animal, Oxidative Stress, Endocrinology, biology.protein, Cancer research, ATP-Binding Cassette Transporters, Insulin Resistance, Transcriptome, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94571f1749054f371c84a6fd0455f479Test

المؤلفون: Geurts, J.M.W., Janssen, R.G.J.H., van Greevenbroek, M.M.J., van der Kallen, C.J.H., Cantor, R.M., Bu, X., Aouizerat, B.E., Allayee, H., Lanning, C.D., Buurman, W.A., Rotter, J.L., de Bruin, T.W.A.

المساهمون: Populatie Genetica, Interne Geneeskunde, Algemene Heelkunde, RS: NUTRIM School of Nutrition and Translational Research in Metabolism, RS: CARIM School for Cardiovascular Diseases

المصدر: Human Molecular Genetics, 9(14), 2067-2074. Oxford University Press

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Genotype, Apolipoprotein B, Genetic Linkage, DNA Mutational Analysis, Population, Hyperlipidemia, Familial Combined, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Receptors, Tumor Necrosis Factor, Exon, Gene mapping, Internal medicine, Genetics, medicine, Humans, Receptors, Tumor Necrosis Factor, Type II, Allele, education, Molecular Biology, Alleles, Genetics (clinical), Apolipoproteins B, Family Health, education.field_of_study, Tumor Necrosis Factor-alpha, Haplotype, Exons, General Medicine, Middle Aged, Introns, Phenotype, Endocrinology, Haplotypes, Chromosomes, Human, Pair 1, Case-Control Studies, Linear Models, biology.protein, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92b8f965f9ac4ba30b965f764b745baeTest
https://doi.org/10.1093/hmg/9.14.2067Test

المؤلفون: Allan T. van Oosterom, Ludwine Messiaen, Patrick Pauwels, Thomas De Raedt, Hans Prenen, Anne De Paepe, Maria Debiec-Rychter, Ophélia Maertens, Agnieszka Wozniak, Raphael Sciot, Frank Speleman, Joris Vermeesch, Ivo De Wever, Eric Legius

المصدر: Human molecular genetics

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Receptor, Platelet-Derived Growth Factor alpha, Gastrointestinal Stromal Tumors, DNA Mutational Analysis, PDGFRA, Carcinoid Tumor, Pathogenesis, Duodenal Neoplasms, Genetics, medicine, Tumor Cells, Cultured, Humans, Neurofibromatosis, Molecular Biology, neoplasms, Biology, Genetics (clinical), Aged, Oligonucleotide Array Sequence Analysis, Gastrointestinal tract, Neurofibromin 1, GiST, biology, Imatinib, General Medicine, Middle Aged, medicine.disease, digestive system diseases, nervous system diseases, Proto-Oncogene Proteins c-kit, Imatinib mesylate, Immunology, Cancer research, biology.protein, Female, Human medicine, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16aa3e38d73cd9985065b8a2e14ddf5cTest
https://repository.uantwerpen.be/docstore/d:irua:4189Test

المؤلفون: K N, Alagramam, H, Yuan, M H, Kuehn, C L, Murcia, S, Wayne, C R, Srisailpathy, R B, Lowry, R, Knaus, L, Van Laer, F P, Bernier, S, Schwartz, C, Lee, C C, Morton, R F, Mullins, A, Ramesh, G, Van Camp, G S, Hageman, R P, Woychik, R J, Smith, G S, Hagemen

المصدر: Human molecular genetics

مصطلحات موضوعية: Adult, Male, animal structures, Genetic Linkage, Usher syndrome, Blotting, Western, DNA Mutational Analysis, Molecular Sequence Data, Nonsense mutation, Cadherin Related Proteins, Protocadherin, Deafness, Biology, Retina, Mice, Exon, Fetus, CDH23, otorhinolaryngologic diseases, Genetics, medicine, Animals, Humans, Amino Acid Sequence, Protein Precursors, Molecular Biology, In Situ Hybridization, Fluorescence, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Sequence Homology, Amino Acid, medicine.diagnostic_test, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Usher Syndrome Type 1, Syndrome, General Medicine, Blotting, Northern, Cadherins, medicine.disease, Molecular biology, Cochlea, Pedigree, Mutation, Female, PCDH15, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6524cf5f1965b23c42339cc0196a7945Test
https://hdl.handle.net/10067/358410151162165141Test