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المؤلفون: Fernando Arribas-Ynsaurriaga, Jorge Nuche, Rafael Salguero-Bodes, Juan F. Delgado, María Valverde-Gómez, Julián Palomino-Doza
المصدر: Revista Española de Cardiología (English Edition). 73:180-183
مصطلحات موضوعية: Poor prognosis, Beta-Myosin, Heavy chain, business.industry, New mutation, Mutation (genetic algorithm), Cancer research, Hypertrophic cardiomyopathy, medicine, Cardiomyopathy, General Medicine, medicine.disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::06a725b31e37876c609b46d09d056d3cTest
https://doi.org/10.1016/j.rec.2019.07.001Test -
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المؤلفون: Francisco Barros-Angueira, Tamara Lourido-Cebreiro, María Luisa Pérez del Molino, Ana Casal-Mouriño, Ana Palacios-Bartolomé, Luis Valdés, Tara Pereiro-Brea
المصدر: Archivos de Bronconeumología. 56:60-62
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Internal medicine, New mutation, medicine, MEDLINE, General Medicine, business, medicine.disease, Gastroenterology, Cystic fibrosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::831e945a262276cbf12b26ba6f122b85Test
https://doi.org/10.1016/j.arbres.2019.07.011Test -
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المؤلفون: M. Bengoa Caamaño, J M Pardal-Fernandez, S. Álvarez, M C Carrascosa-Romero, C. de Cabo, M.C. Medina-Monzón
المصدر: Neuromuscular Disorders. 28:881-884
مصطلحات موضوعية: Male, 0301 basic medicine, Bioinformatics, Compound heterozygosity, Genetic analysis, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Gene, Genetics (clinical), Myasthenic Syndromes, Congenital, Muscle Weakness, Symporters, business.industry, Infant, Newborn, Congenital myasthenic syndrome, medicine.disease, Choline transporter, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), New mutation, Neurology (clinical), Differential diagnosis, Respiratory Insufficiency, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c3cd92b125b1a458d7b30f02ec35eaTest
https://doi.org/10.1016/j.nmd.2018.06.020Test -
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المؤلفون: Alessandro Malandrini, Anna Rubegni, Maria Teresa Dotti, Teresa Anna Cantisani, Andrea Mignarri, Claudia Nesti, Antonio Federico, Niccola Funel, Elena Cardaioli, Filippo M. Santorelli
المصدر: Biochemical and Biophysical Research Communications. 500:158-162
مصطلحات موضوعية: Adult, 0301 basic medicine, Mitochondrial DNA, tRNATrp, Mitochondrial disease, Biophysics, Epilepsies, Myoclonic, Epilepsies, 030105 genetics & heredity, Biology, Trp, Biochemistry, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, Retinitis pigmentosa, medicine, Humans, Genetic Predisposition to Disease, Vascular Calcification, Tomography, Molecular Biology, Genetics, Base Sequence, mtDNA, MT-TW gene, New mutation, DNA, Sequence Analysis, DNA, Cell Biology, RNA, Transfer, Trp, medicine.disease, Female, Mutation, Retinitis Pigmentosa, Tomography, X-Ray Computed, MT-TW, Heteroplasmy, X-Ray Computed, Transfer, Mitochondrial respiratory chain, Mutation (genetic algorithm), RNA, Myoclonic, Sequence Analysis, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4908310ffbc2c194bdb0488778a5c4d4Test
https://doi.org/10.1016/j.bbrc.2018.04.009Test -
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المؤلفون: Atsushi Watanabe, Yasuo Kitamura, Keiki Yokoo, Naoki Hirokawa, Masahiro Miyajima, Sayaka Kudoh, Aki Ishikawa, Gen Yamada, Hiroshi Saijo, Hiroki Takahashi, Hiroko Morisaki, Hirofumi Chiba
المصدر: Respiratory Medicine Case Reports
Respiratory Medicine Case Reports, Vol 25, Iss, Pp 73-77 (2018)مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, Osler-Weber-Rendu Disease, Case Report, Endovascular occlusion, Pulmonary arteriovenous malformation, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, medicine, Telangiectasia, Genetic testing, lcsh:RC705-779, medicine.diagnostic_test, business.industry, lcsh:Diseases of the respiratory system, Partial resection, Hereditary hemorrhagic telangiectasia, 030228 respiratory system, Mutation (genetic algorithm), New mutation, Radiology, medicine.symptom, business, Osler-Weber-Rendu disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e4e80833bb1bef44c1f409b4db3ba6aTest
https://doi.org/10.1016/j.rmcr.2018.07.001Test -
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المؤلفون: Carlos González Oller, Raimundo G. del Moral, Mercedes Caba Molina, M. Adoración Martín-Gómez, Coto Eliecer
المصدر: Nefrología (English Edition). 39:309-311
مصطلحات موضوعية: Adult, Genetics, Tamm–Horsfall protein, biology, business.industry, Hyperuricemia, Pedigree, HYPERURICAEMIC NEPHROPATHY, Nephrology, Mutation, Uromodulin, New mutation, biology.protein, Humans, Medicine, Female, Kidney Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b73cb652ad6e859174848b6263d9c0fdTest
https://doi.org/10.1016/j.nefroe.2018.09.004Test -
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المؤلفون: Aida Bushati, Jera Kruja, Aferdita Tako, Anila Babameto
المصدر: Journal of the Neurological Sciences. 429:118273
مصطلحات موضوعية: Genetics, Neurology, business.industry, New mutation, Bethlem myopathy, Medicine, Neurology (clinical), business, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::831a4702582763110a1e9e8e8838fcb9Test
https://doi.org/10.1016/j.jns.2021.118273Test -
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المصدر: Medicina Clínica. 156:94-95
مصطلحات موضوعية: Genetics, medicine.diagnostic_test, business.industry, Pontocerebellar hypoplasia, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, Amino Acyl-tRNA Synthetases, Cerebellar diseases, Cerebellar Diseases, Mutation, Mutation (genetic algorithm), New mutation, medicine, Humans, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::274da7a171953253038f1800da14500cTest
https://doi.org/10.1016/j.medcli.2019.10.005Test -
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المؤلفون: Diego Alvarez Ballano, Pablo Trincado Aznar, María Martínez García, María Elena López Alaminos, Karol Almendra Alvarado Rosas
المصدر: Endocrinología, Diabetes y Nutrición. 67:611-612
مصطلحات موضوعية: medicine.medical_specialty, Nutrition and Dietetics, business.industry, Endocrinology, Diabetes and Metabolism, Insulin, medicine.medical_treatment, medicine.disease, Endocrinology, Text mining, Diabetes mellitus, Internal medicine, New mutation, medicine, business, Receptor, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fe287b1cea4d30d61e810c2f82f8e53fTest
https://doi.org/10.1016/j.endinu.2019.11.008Test -
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المؤلفون: Ana Peña Cabia, Enrique Prada de Medio, Sandra Serrano Martínez, Mubarack Alramadan, Ana María Cerezo Arillo, María Luisa Giménez Alarcón
المصدر: Revista del Laboratorio Clínico. 9:173-176
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, business.industry, Biochemistry (medical), Clinical Biochemistry, Thyroid, Genetic disorder, 030209 endocrinology & metabolism, medicine.disease, Thyroid hormone receptor beta, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Endocrinology, Free thyroxin, Internal medicine, New mutation, medicine, 030212 general & internal medicine, business, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6bee7197665e0e5e3763170b1ac6db07Test
https://doi.org/10.1016/j.labcli.2016.06.001Test