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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 -
62
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 -
63
المؤلفون: Zeel Shah
المصدر: Research & Reviews: Journal of Neuroscience.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.drug_class, business.industry, Gross motor skill, Genetic disorder, Head growth, Hyperammonemia, Rett syndrome, medicine.disease, Sedative, New mutation, medicine, business, X chromosome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d1054758977bced2255efd26e0cf7863Test
https://doi.org/10.37591/rrjon.v11i1.2463Test -
64
المؤلفون: Meiling Hu, Yuhuan Meng, Shudai Lin, Wei Liu, Jerome R Lon, Yunmeng Bai, Binbin Xi, Yuting Huang, Yimo Qu, Dawei Jiang, Shuhua Li, Hongli Du
مصطلحات موضوعية: Combinatorial analysis, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), New mutation, Haplotype, Mutation (genetic algorithm), Key (cryptography), Computational biology, Biology, Pathogenicity, Genome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f8e205a811295c65dea45ec04d43dae2Test
https://doi.org/10.1101/2020.12.24.424271Test -
65
المؤلفون: Maria Guedes Marques, Rui Alves, Ana Luísa Correia
المصدر: Nefrologia. 42(4)
مصطلحات موضوعية: Slc12a3 gene, Genetics, Nephrology, business.industry, New mutation, Mutation, Medicine, Humans, Solute Carrier Family 12, Member 3, Gitelman syndrome, business, medicine.disease, Gitelman Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dc554c61f4c579fc7440b6d766adde4Test
https://pubmed.ncbi.nlm.nih.gov/36460433Test -
66
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 -
67
المؤلفون: George Nesr, Letizia Foroni, Simone Claudiani, Chloe Hayden, Pierre Foskett, Kathy Dominy, Jamshid S. Khorashad, Jane F. Apperley, Andrew J. Innes, Afzal Khan, Richard Szydlo, Dragana Milojkovic
المصدر: British journal of haematologyReferences. 193(2)
مصطلحات موضوعية: Oncology, Adult, Male, medicine.medical_specialty, Blast Crisis, medicine.medical_treatment, Dasatinib, Fusion Proteins, bcr-abl, Comorbidity, Chronic myeloid leukaemia, Targeted therapy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Nitriles, medicine, Humans, In patient, Adverse effect, Protein Kinase Inhibitors, Aged, Retrospective Studies, Aged, 80 and over, Aniline Compounds, Drug Tapering, business.industry, Remission Induction, Hematology, Middle Aged, respiratory tract diseases, Clinical Practice, Pyrimidines, Treatment Outcome, 030220 oncology & carcinogenesis, New mutation, Mutation, Imatinib Mesylate, Quality of Life, Quinolines, Dose reduction, Female, Safety, business, 030215 immunology, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4d5ddff497ddb437bf93ce09b5c2f8Test
https://pubmed.ncbi.nlm.nih.gov/33368155Test -
68
المؤلفون: Wesley G. Beamer, Hope O. Sweet, John P. Sundberg, Seth J. Orlow
مصطلحات موضوعية: Mutation, Pathology, medicine.medical_specialty, integumentary system, Polydactyly, business.industry, Cortical morphology, Chromosome, medicine.disease, medicine.disease_cause, Hyperpigmentation, Dysplasia, New mutation, medicine, medicine.symptom, business, Adrenocortical Insufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d9155715f2bbd074f4f1b0aeff11b94dTest
https://doi.org/10.1201/9781003068952-18Test -
69
المؤلفون: Franca Fruzzetti, P Agretti, Francesca Orsolini, Elena Benelli, Marco Giuseppina De, M. Tonacchera, E. Ferrarini, Cosmo Caterina Di
المصدر: Endocrine Abstracts.
مصطلحات موضوعية: business.industry, New mutation, Medicine, Identification (biology), Premature ovarian insufficiency, business, Bioinformatics, Clinical evaluation, Genetic analysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c44cfda0f3e98181325d29941975beeaTest
https://doi.org/10.1530/endoabs.70.aep790Test -
70صورة
المؤلفون: Ning Jia (520422), Lianpeng Chang (433830), Xin Gao (14001), Xiaohua Shi (697596), Xuelin Dou (10938549), Mei Guan (552025), Yajuan Shao (11174160), Ningning Li (566420), Yuejuan Cheng (5506805), Hongyan Ying (11174163), Zhao Sun (283073), Yanping Zhou (1612300), Lin Zhao (92451), Jianfeng Zhou (53330), Chunmei Bai (6339917)
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Cancer, Chemical Sciences not elsewhere classified, New mutation, Circulating tumour DNA, Next generation sequencing, Biomarker, Metastatic colorectal cancer