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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: 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: Luis Enrique Lezcano Gort, Zineb Kounka, María Victoria Mogollón Jiménez, Lorenzo Monserrat, Benjamín Roque Rodríguez, José Javier Gómez Barrado
المصدر: Revista espanola de cardiologia (English ed.). 73(4)
مصطلحات موضوعية: Genetics, Adult, Male, Aortic Aneurysm, Thoracic, business.industry, DNA Mutational Analysis, General Medicine, DNA, Actins, Pedigree, Aortic Dissection, New mutation, Mutation, Medicine, ACTA2 gene, Humans, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f53de8edd0baff357be181c28d3c0956Test
https://pubmed.ncbi.nlm.nih.gov/31879232Test -
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المؤلفون: Qingyu Wang, Yonggen Zhang, Hongxiang Ding, Ping Ma, Yingyu Wang
المصدر: Blood coagulationfibrinolysis : an international journal in haemostasis and thrombosis. 30(2)
مصطلحات موضوعية: Adult, Models, Molecular, Heterozygote, Protein Folding, Factor XI Deficiency, DNA Mutational Analysis, Mutation, Missense, 030204 cardiovascular system & hematology, Biology, 03 medical and health sciences, 0302 clinical medicine, Asian People, Missense mutation, Humans, Gene, Factor XI, Menorrhagia, Heterozygous mutation, Genetics, Delayed wound healing, Wound Healing, Heterozygote advantage, Hematology, General Medicine, Pedigree, New mutation, Codon, Terminator, Female, Novel mutation, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689b96ebf6847a559f8e0448e1bc42b6Test
https://pubmed.ncbi.nlm.nih.gov/30720488Test -
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المصدر: Topics in Companion Animal Medicine. 39:100404
مصطلحات موضوعية: Male, Proband, 040301 veterinary sciences, 0403 veterinary science, Dogs, medicine, Animals, Genetic Predisposition to Disease, Hypohidrotic ectodermal dysplasia, Small Animals, X chromosome, Genetics, Yorkshire Terrier, Ectodermal Dysplasia 1, Anhidrotic, business.industry, 0402 animal and dairy science, Bayes Theorem, 04 agricultural and veterinary sciences, medicine.disease, 040201 dairy & animal science, Pedigree, Mutation, New mutation, Mutation (genetic algorithm), Hypotrichosis, Ectodysplasin A, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac000bfa6b7a1493236b916a9f46d983Test
https://doi.org/10.1016/j.tcam.2020.100404Test -
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المؤلفون: Sara Gómez Rodríguez, Cristina Navea Aguilera, Isabel Pavón de Paz, Belén Gil Fournier, María Soraya Ramiro León
المصدر: Endocrinología y Nutrición (English Edition). 63:367-369
مصطلحات موضوعية: Male, Reproductive Techniques, Assisted, Genetic counseling, Mutation, Missense, Genetic Counseling, Collagen Type I, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Point Mutation, 030212 general & internal medicine, Young adult, Genes, Dominant, Genetics, business.industry, Point mutation, Infant, Newborn, Amino acid substitution, Middle Aged, Osteogenesis Imperfecta, medicine.disease, Infant newborn, Pedigree, Collagen Type I, alpha 1 Chain, Amino Acid Substitution, Osteogenesis imperfecta, New mutation, Female, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a90232ac72d2d5bc745398f5d1bff55cTest
https://doi.org/10.1016/j.endoen.2016.08.004Test -
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المؤلفون: Jia Li, Tianji Shi, Jiajun Chen, Cheng Tan
المصدر: Medicine
مصطلحات موضوعية: Adult, Male, Proband, Pathology, medicine.medical_specialty, hereditary diffuse leukoencephalopathy, new mutation site, Disease, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, medicine, Humans, Dementia, Clinical Case Report, 030212 general & internal medicine, medicine.diagnostic_test, business.industry, genetic family trees, High-Throughput Nucleotide Sequencing, Magnetic resonance imaging, General Medicine, medicine.disease, Hyperintensity, Pedigree, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, 030220 oncology & carcinogenesis, Mutation, Mutation (genetic algorithm), business, Research Article, HDLS, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31d1ac0b720f42230c18a05e939d4064Test
https://doi.org/10.1097/md.0000000000015802Test -
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المؤلفون: Nurcan Cengiz, Aysun Karabay-Bayazit, Aytül Noyan, Ali Kemal Topaloglu, Berna Şeker-Yılmaz, Gülay Ceylaner, Deniz Kor, Neslihan Önenli-Mungan, Ali Anarat, Bilgin Yüksel, Sevgi Yavuz
المساهمون: Çukurova Üniversitesi
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Genotype, Turkey, Cystinosis, 030232 urology & nephrology, 030204 cardiovascular system & hematology, medicine.disease_cause, Compound heterozygosity, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, medicine, Humans, Child, Mutation, Traditional medicine, business.industry, Clinical course, Infant, medicine.disease, Phenotype, Pedigree, Amino Acid Transport Systems, Neutral, Pediatri, Child, Preschool, Pediatrics, Perinatology and Child Health, New mutation, Female, business, South eastern
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4b89834c5341a0c30234d4532f216c3Test
https://hdl.handle.net/20.500.12605/5063Test -
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المؤلفون: Peter J.M.J. Kok, Judith O. Kaufmann, Piero C. Giordano, Margreet Bakker-Verweij, Sandra G.J. Arkesteijn, Florens G. A. Versteegh, Cornelis L. Harteveld, Peter van Delft, Marion Phylipsen, Gideon W.A. Lansbergen, Karola Haanappel
المصدر: Hemoglobin, 35(2), 97-102
مصطلحات موضوعية: Adult, Male, Clinical Biochemistry, Mutant, Population, Capillary electrophoresis (CE), Biology, High-performance liquid chromatography, alpha-Thalassemia, Point mutations, Humans, Point Mutation, alpha-Thalassemia (alpha-thal), Hemoglobin A2, Child, Codon, education, Gene, Genetics (clinical), Genetics, education.field_of_study, Hematologic Tests, Base Sequence, Point mutation, Biochemistry (medical), Hematology, Phenotype, Molecular biology, Pedigree, Abnormal hemoglobin, Hemoglobinopathies, Amino Acid Substitution, Child, Preschool, New mutation, Female, High performance liquid chromatography (HPLC)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cded5ac4cbdb85c7d80f72ab22d17338Test
https://doi.org/10.3109/03630269.2011.557459Test -
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المؤلفون: L Pollack, C T Caskey, R L Nussbaum, L C Cohan
المصدر: Clinical Genetics. 18:329-341
مصطلحات موضوعية: Male, musculoskeletal diseases, Genetics, Heterozygote, Duchenne muscular dystrophy, Sporadic occurrence, Dystrophy, Heterozygote advantage, Biology, Carrier testing, medicine.disease, Chromosomes, Muscular Dystrophies, Pedigree, Mutation, New mutation, Mutation (genetic algorithm), medicine, Humans, Female, Creatine Kinase, Genetics (clinical), Probability, Maternal grandmother
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f31b43aa0023b1b54407b1bfbe1651dTest
https://doi.org/10.1111/j.1399-0004.1980.tb02293.xTest