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المؤلفون: Mostafa Almasi-Dooghaee, Omid Aryani, Fatemeh Sadat Mirfazeli, Amin Jahanbakhshi, Fatemeh Mohebi
المصدر: Basic and Clinical Neuroscience Journal. 13:893-900
مصطلحات موضوعية: Genetics, Cellular and Molecular Neuroscience, Wolfram syndrome, business.industry, New mutation, medicine, Jump, Neurology (clinical), medicine.disease, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e56afd723fa17b7af04fa871ef9eceddTest
https://doi.org/10.32598/bcn.2021.910.3Test -
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المؤلفون: Hector Vera Cuesta, Laritza Martínez Rey, Tatiana Acosta Sánchez, Deynis Carmenate Naranjo
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210013, Published: 09 AUG 2021مصطلحات موضوعية: Mutation, Medicine (General), NAGLU, business.industry, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, Sanfilippo syndrome, medicine.disease, medicine.disease_cause, Compound heterozygosity, Phenotype, R5-920, Mucopolysaccharidosis III, Pediatrics, Perinatology and Child Health, Immunology, medicine, business, Gene, Genetics (clinical), hirsutism, new mutation
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::002b0539955a481b7aeca343ab3223ebTest
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100505&tlng=enTest -
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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: David Buckley
المصدر: Textbook of Primary Care Dermatology ISBN: 9783030291006
مصطلحات موضوعية: Genetics, Adult life, Tuberous sclerosis, business.industry, Genetic counseling, New mutation, Genodermatosis, Medicine, Single gene, business, medicine.disease, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1b4ea381dfbe00641501cdc74d908e62Test
https://doi.org/10.1007/978-3-030-29101-3_28Test -
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المؤلفون: Charles Marques Lourenço, Jaime Eduardo Cecílio Hallak, Wilson Marques, Pedro J. Tomaselli, Silmara P. Gouvea, Fernanda Barbosa Figueiredo, Silvana Giuliatti, Wilson A. Silva, Anna Paula Paranhos Miranda Covaleski
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Population, Prevalence, Nerve Tissue Proteins, Disease, Biology, Cohort Studies, 03 medical and health sciences, Tooth disease, Young Adult, 0302 clinical medicine, Recessive inheritance, Charcot-Marie-Tooth Disease, Humans, education, Child, Gene, Genetics (clinical), Likely pathogenic, Genetics, Guanine Deaminase, education.field_of_study, MUTAÇÃO GENÉTICA, Axons, nervous system diseases, Pedigree, 030104 developmental biology, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, New mutation, Mutation, Female, Neurology (clinical), 030217 neurology & neurosurgery, Brazil
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef65dc156ae331e9a88bd20c1ef50efbTest
https://pubmed.ncbi.nlm.nih.gov/33903021Test -
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المؤلفون: Shirin Farjadian, Giovanni Romeo, Francesco Bonatti, A. Soriano, Claudio Graziano, Antonio Percesepe, Mozhgan Moghtaderi, Michele Reina, Alessia Adorni, Davide Martorana
المصدر: Reumatismo, Vol 71, Iss 2 (2019)
مصطلحات موضوعية: Male, lcsh:Internal medicine, MEFV gene, Familial Mediterranean fever, lcsh:Medicine, Gene mutation, Iran, medicine.disease_cause, Pyrin domain, 03 medical and health sciences, Exon, 0302 clinical medicine, Rheumatology, medicine, Humans, 030212 general & internal medicine, Child, lcsh:RC31-1245, Gene, new mutation, 030203 arthritis & rheumatology, Genetics, Mutation, business.industry, lcsh:R, Pyrin, medicine.disease, MEFV, New mutation, autoinflammatory disorders, business, Pyrin protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7614f776cb9e7547814c827bd438f0fcTest
https://www.reumatismo.org/index.php/reuma/article/view/1141Test -
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المؤلفون: Lucio Manenti, Micaela Gentile, Viviana Palazzo, Enrico Fiaccadori, Sabrina Giglio, Isabella Pisani, Marco Allinovi
المصدر: Nephrology Dialysis Transplantation. 35
مصطلحات موضوعية: Genetics, Transplantation, Nephrology, business.industry, New mutation, Medicine, Disease, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0121d195c8c4f55e6e2ce64446f67e3dTest
https://doi.org/10.1093/ndt/gfaa142.p0077Test -
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المصدر: IEEE/ACM transactions on computational biology and bioinformatics. 18(6)
مصطلحات موضوعية: Stochastic Processes, DNA Copy Number Variations, Somatic cell, Applied Mathematics, Computational Biology, Bayes Theorem, Computational biology, Biology, Tumor heterogeneity, Genetic Heterogeneity, Model parameter, Feature (computer vision), Neoplasms, Mutation (genetic algorithm), New mutation, Genotype, Mutation, Genetics, Humans, Gene, Monte Carlo Method, Algorithms, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20f8e5a5a48196d7ddf692bd4fa5965eTest
https://pubmed.ncbi.nlm.nih.gov/32070995Test -
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المؤلفون: Alessandra Renieri, Diego Lopergolo, Anna Maria Pinto, Carla Battisti, A. Russo
مصطلحات موضوعية: Epilepsy, business.industry, COL4A1 gene, MEDLINE, Headache, Bioinformatics, medicine.disease, Small vessel disease, Leukoencephalopathy, Stroke, Neurology, New mutation, medicine, Fundus oculi, Neurology (clinical), business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c984db40b269f738529441a07187928aTest
http://hdl.handle.net/11365/1133689Test -
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المؤلفون: Ana Maria Reis Ferreira, Felipe Gomes Ferreira Padilha, Liane de Castro, Kênia Balbi El-Jaick, Aline dos Santos Moreira
المصدر: Journal of Equine Science. 29:21-24
مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Genetics, biology, Equine, Myostatin, 01 natural sciences, Genomic databases, Breed, Genetic profile, 03 medical and health sciences, 030104 developmental biology, New mutation, biology.protein, Gene, Selection (genetic algorithm), 010606 plant biology & botany, Genetic association
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3438d16df79d9d65c8843f228ba4261eTest
https://doi.org/10.1294/jes.29.21Test