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1دورية أكاديمية
المؤلفون: Yoonessi, Leila, Randhawa, Inderpal, Nussbaum, Eliezer, Saharti, Samah, Do, Paul, Chin, Terry, Zwerdling, Ted
المصدر: Journal of Pediatric Hematology/Oncology. 37(7)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Pediatric, Prevention, Clinical Research, Hematology, Inflammatory and immune system, Age of Onset, Blood Platelets, Humans, Infant, Male, Mutation, Wiskott-Aldrich Syndrome, Wiskott-Aldrich Syndrome Protein, Wiskott-Aldrich syndrome, new mutation, normal platelet volume, Cardiorespiratory Medicine and Haematology, Oncology & Carcinogenesis, Cardiovascular medicine and haematology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/07v8483sTest
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2دورية أكاديمية
المؤلفون: Yoonessi, Leila, Randhawa, Inderpal, Nussbaum, Eliezer, Saharti, Samah, Do, Paul, Chin, Terry, Zwerdling, Ted
المصدر: Journal of pediatric hematology/oncology. 37(7)
مصطلحات موضوعية: Blood Platelets, Humans, Wiskott-Aldrich Syndrome, Age of Onset, Mutation, Infant, Male, Wiskott-Aldrich Syndrome Protein, Wiskott-Aldrich syndrome, new mutation, normal platelet volume, Oncology & Carcinogenesis, Cardiorespiratory Medicine and Haematology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/07v8483sTest
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المؤلفون: Yi-Heng Zhu, Jian Xu Data, Fang Ge, Dong-Jun Yu, Arif Muhammad, Jiangning Song
المصدر: Computational and Structural Biotechnology Journal, Vol 19, Iss, Pp 6400-6416 (2021)
Computational and Structural Biotechnology Journalمصطلحات موضوعية: Pred-MutHTP, prediction of mutations in human transmembrane proteins, fathmm, functional analysis through hidden markov models, 1000 Genomes, 1000 genomes project consortium, Computer science, SNAP, screening for non-acceptable polymorphisms, Condel, consensus deleteriousness score of missense mutations, ClinVar, clinical variants, medicine.disease_cause, Biochemistry, PROVEAN, protein variation effect analyzer, Structural Biology, Entprise, entropy and predicted protein structure, Feature (machine learning), Missense mutation, SwissVar, variants in UniProtKB/Swiss-Prot, REVEL, rare exome variant ensemble learner, Mutation, Cascade XGBoost, Transmembrane protein, Computer Science Applications, TMSNP, transmembrane single nucleotide polymorphisms, APOGEE, pathogenicity prediction through the logistic model tree, Cascade, New mutation, Research Article, Biotechnology, PolyPhen-2, polymorphism phenotyping v2, Mutation prediction, PredictSNP1, predict single nucleotide polymorphism v1, Biophysics, COSMIC, catalogue of somatic mutations in cancer, Computational biology, SDM, site-directed mutate, Encoding (memory), Classifier (linguistics), Genetics, medicine, ComputingMethodologies_COMPUTERGRAPHICS, PolyPhen, polymorphism phenotyping, Protein evolutionary information, BorodaTM, boosted regression trees for disease-associated mutations in transmembrane proteins, humsavar, human polymorphisms and disease mutations, SIFT, sorting intolerant from tolerant, ExAC, the exome aggregation consortium, WEKA, waikato environment for knowledge analysis, SNP&GO, single nucleotide polymorphisms and gene ontology annotations, Meta-SNP, meta single nucleotide polymorphism, Disease-associated mutations, TP248.13-248.65
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ab4583865fc088881c6f516bb043a13Test
http://www.sciencedirect.com/science/article/pii/S200103702100489XTest -
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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: Mei Guan, Xue-lin Dou, Ningning Li, Xiaohua Shi, Chunmei Bai, Xin Gao, Lianpeng Chang, Yanping Zhou, Zhao Sun, Hongyan Ying, Lin Zhao, Ya-Juan Shao, Ning Jia, Jianfeng Zhou, Yuejuan Cheng
المصدر: BMC Cancer
BMC Cancer, Vol 21, Iss 1, Pp 1-10 (2021)مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, Colorectal cancer, medicine.medical_treatment, Kaplan-Meier Estimate, Circulating Tumor DNA, 0302 clinical medicine, FOLFOX, Antineoplastic Combined Chemotherapy Protocols, RC254-282, Metastatic colorectal cancer, New mutation, Hazard ratio, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, High-Throughput Nucleotide Sequencing, Middle Aged, Prognosis, Fluorouracil, 030220 oncology & carcinogenesis, FOLFIRI, Female, Colorectal Neoplasms, Circulating tumour DNA, medicine.drug, Adult, Proto-Oncogene Proteins B-raf, medicine.medical_specialty, Proto-Oncogene Proteins p21(ras), 03 medical and health sciences, Next generation sequencing, Internal medicine, Biomarkers, Tumor, Genetics, medicine, Humans, Aged, Neoplasm Staging, Chemotherapy, business.industry, Research, Biomarker, medicine.disease, Oxaliplatin, Irinotecan, 030104 developmental biology, Mutation, Tomography, X-Ray Computed, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bbf1b6459822ab0a90c3b772868f37eTest
https://doi.org/10.1186/s12885-021-08309-2Test -
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المؤلفون: Rezvan Abtahi, Parvaneh Karimzadeh, Omid Aryani, Diba Akbarzadeh, Shadab Salehpour, Alireza Rezayi, Seyed Hassan Tonekaboni, Reza Zolfaghari Emameh, Massoud Houshmand
المصدر: Hereditas
Hereditas, Vol 159, Iss 1, Pp 1-11 (2022)مصطلحات موضوعية: Molecular Study, New Mutation, Research, Computational Biology, Niemann-Pick Disease, Type C, General Medicine, Exons, QH426-470, Iran, Niemann-Pick C1 Protein, Niemann-Pick C, Mutation, Genetics, Humans
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac315a745c484672117b387471950710Test
https://pubmed.ncbi.nlm.nih.gov/35086560Test -
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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: 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 -
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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: 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