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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: Christopher Rushton, Duncan Lyons, Sandeepal Sidhu
المصدر: Journal of Medical Cases
مصطلحات موضوعية: Male, X-linked dominant condition, Fat herniation, medicine.medical_specialty, Adult male, medicine.diagnostic_test, integumentary system, business.industry, Genetic disorder, Case Report, Unilateral, medicine.disease, Dermatology, Focal dermal hypoplasia, Multisystem disease, Somatic mosaicism, Rare case, New mutation, Skin biopsy, medicine, Goltz syndrome, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1809a505f5d6ffcdcb23fab385eba9c1Test
http://europepmc.org/articles/PMC8383521Test -
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المؤلفون: Wen Zhu, Tian-Jiao Wang, Hua Wang, Li-Fang Wu, Yi-Qun Teng, Junguo Chen, Xiao-Lin Liu
المصدر: Immunologic Research. 67:454-459
مصطلحات موضوعية: Male, Liver injury, Pathology, medicine.medical_specialty, X-Linked Hyper IgM Syndrome, Hyper-IgM Immunodeficiency Syndrome, Type 1, business.industry, Hyper-IgM Immunodeficiency Syndrome, CD40LG gene, CD40 Ligand, Immunology, Mutation, Missense, Infant, Locus (genetics), medicine.disease, Amino Acid Substitution, Genetic Loci, New mutation, medicine, Hepatic Insufficiency, Humans, Missense mutation, Interstitial pneumonia, Lung Diseases, Interstitial, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06e318257922a6ba071e90929d9d2751Test
https://doi.org/10.1007/s12026-019-09098-4Test -
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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: 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: 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 -
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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: Sofia Hadjieconomou, Jenny Hughes
المصدر: Pediatric Dermatology. 37:983-984
مصطلحات موضوعية: Male, Hemangioma, Cavernous, Central Nervous System, medicine.medical_specialty, Pathology, Neurology, Adolescent, Dermatology, Cerebral cavernous malformations, Asymptomatic, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Proto-Oncogene Proteins, medicine, Humans, Genetic Testing, Family history, Genetic testing, medicine.diagnostic_test, business.industry, Spinal cord, Magnetic Resonance Imaging, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, New mutation, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::096af2074d571bf5778f63d926e75642Test
https://doi.org/10.1111/pde.14296Test