يعرض 1 - 10 نتائج من 37 نتيجة بحث عن '"CLINICAL FEATURE"', وقت الاستعلام: 1.13s تنقيح النتائج
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    المساهمون: Ege Üniversitesi, Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları., Çekiç, Şükrü, Karalı, Yasin, Aslan, Törehan, Sevinir, Betül, Kılıç, Sara Şebnem, FFS-1974-2022, AAH-1570-2021

    المصدر: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyREFERENCES. 31(5)

    مصطلحات موضوعية: Male, Secondary, Hematologic malignancy, Turkey, medicine.medical_treatment, Lymphadenopathy, Diseases, Real time polymerase chain reaction, Pediatrics, Gene, 0302 clinical medicine, Squamous cell carcinoma, Guanine Nucleotide Exchange Factors, Colon adenocarcinoma, Neurilemoma, Child, Nephroblastoma, Burkitt lymphoma, Rectum carcinoma, Prognosis, Multicenter study, Clinical trial, Antineoplastic agent, Child, Preschool, Cohort, Nonhodgkin lymphoma, Cancer chemotherapy, Cohort analysis, Human, medicine.medical_specialty, Remission, Immunology, Major clinical study, Article, 03 medical and health sciences, Age, Humoral immune deficiency, Humans, Acute myeloid leukemia, Immunologic Deficiency Syndromes, Infant, Sex difference, medicine.disease, Mortality rate, B cell lymphoma, Lymphoma, DOCK8 protein, Malignant neoplasm, 030228 respiratory system, DOCK8 Deficiency, Cancer incidence, Ataxia Telangiectasia, Mutation, ATM Protein, Guanine nucleotide exchange factor, Small cell sarcoma, Allergy, DOCK8 deficiency, Immune deficiency, Hematopoietic stem cell transplantation, Turkey (republic), ataxia-telangiectasia, T cell lymphoma, Turkey (bird), Neoplasms, Immunology and Allergy, 030212 general & internal medicine, Thyroid papillary carcinoma, Priority journal, non-Hodgkin lymphoma, Middle Aged, Consanguineous marriage, Cancer radiotherapy, Bloom syndrome, Female, Hemangiopericytoma, Adult, Hodgkin disease, Adolescent, Primary Immunodeficiency Diseases, Family history, Wiskott Aldrich syndrome, lymphoma, primary immunodeficiency, Malignancy, Pathophysiology, Common variable immunodeficiency, Young Adult, Internal medicine, medicine, cancer, Hepatosplenomegaly, Chemotherapy, business.industry, Cancer, Combined immunodeficiency, Solid malignant neoplasm, Clinical feature, Preschool child, Pediatrics, Perinatology and Child Health, Primary immunodeficiency, Neoplasm, business, malignancy

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    المصدر: Repositorio EdocUR-U. Rosario
    Universidad del Rosario
    instacron:Universidad del Rosario

    وصف الملف: application/pdf

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    المساهمون: Surgical clinical sciences, Ear, nose & throat, Acibadem University Dspace, Clinical Genetics, Human genetics, Other Research, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics

    المصدر: American Journal of Medical Genetics. Part A, 167A, 461-75
    Terhal, P A, Nievelstein, R J A J, Verver, E J J, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, M E H, Smithson, S F, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, A H, Veenstra-Knol, H E, Herkert, J C, Lund, A M, Hennekam, R C M, Megarbane, A, Lees, M M, Wilson, L C, Korteland-van Male, A, Hurst, J, Alanay, Y, Anneren, G, Betz, R C, Bongers, E M H F, Cormier-Daire, V, Dieux, A, David, A, Elting, M W, van den Ende, J, Green, A, van Hagen, J M, Hertel, N T, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, H D, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, E M, Tobias, E S, Toutain, A, Vreeburg, M, Wakeling, E, Knoers, N V, Coucke, P & Mortier, G R 2015, ' A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype ', American Journal of Medical Genetics Part A, vol. 167, no. 3, pp. 461-475 . https://doi.org/10.1002/ajmg.a.36922Test
    American Journal of Medical Genetics Part A, 3, 167, 1-15
    American journal of medical genetics : part A
    American Journal of Medical Genetics. Part A, 167A(3), 461. Wiley-Liss Inc.
    American Journal of Medical Genetics. Part A, 167A(3), 461-475. Wiley
    Terhal, P A, Nievelstein, R J A J, Verver, E J J, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, M E H, Smithson, S F, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, A H, Veenstra-Knol, H E, Herkert, J C, Lund, A M, Hennekam, R C M, Mégarbané, A, Lees, M M, Wilson, L C, Male, A, Hurst, J, Alanay, Y, Annerén, G, Betz, R C, Bongers, E M H F, Cormier-Daire, V, Dieux, A, David, A, Elting, M W, van den Ende, J, Green, A, van Hagen, J M, Hertel, N T, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, H D, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, E M, Tobias, E S, Toutain, A, Vreeburg, M, Wakeling, E, Knoers, N V, Coucke, P & Mortier, G R 2015, ' A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype ', American Journal of Medical Genetics. Part A, vol. 167, no. 3, pp. 461-475 . https://doi.org/10.1002/ajmg.a.36922Test
    American Journal of Medical Genetics Part A, 167(3), 461-475. Wiley-Liss Inc.
    American Journal of Medical Genetics. Part A, 167A, 3, pp. 461-75
    American Journal of Medical Genetics Part A, 167(3), 461-475
    American journal of medical genetics. Part A, 167(3), 461-475. Wiley-Liss Inc.

    مصطلحات موضوعية: Male, Hypermetropia, DNA Mutational Analysis, Review, Gene, Osteochondrodysplasias/congenital, Spondyloepiphyseal dysplasia, Genetics(clinical), Child, SEDC, COL2A1 gene, Bronchomalacia, Atlantoaxial dislocation, Pierre Robin syndrome, Osteotomy, Scoliosis, Health, Cleft palate, Spondyloepiphyseal dysplasia congenita, II COLLAGEN, Cohort studies, Hip arthroplasty, SKELETAL DYSPLASIA, Procollagen, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, COL2A1, Glycine, Major clinical study, Osteochondrodysplasias, Behavioural Changes, SDG 3 - Good Health and Well-being, Genetics, spondyloepiphyseal dysplasia, Humans, Genotype phenotype correlation, Collagen Type II, Aged, Tracheomalacia, Infant, medicine.disease, Otorhinolaryngology, DEFECT, Collagen disorder, School child, Human medicine, mutation, MYELOPATHY, Pediatrics, Amino acid substitution, Spondyloperipheral dysplasia, LS - Life Style, surgery, Tracheostomy, Serine, Myopia, Missense mutation, RETINAL-DETACHMENT, Non-U.S. Gov't, Genetics (clinical), Heterozygosity, Research Support, Non-U.S. Gov't, Odontoid Hypoplasia, Middle Aged, genotype-phenotype, Clubfoot, Phenotype, KNIEST-DYSPLASIA, young adult, Female, medicine.symptom, Collagen Type II/genetics, Healthy Living, radiography, Adult, EXPRESSION, Retina detachment, Child, preschool, Adolescent, review, Population research, Genotype-phenotype, Research Support, Short stature, Hearing impairment, Multiple epiphyseal dysplasia, Kniest dysplasia, CARTILAGE, Coxa vara, Journal Article, medicine, Gene mutation, Disease severity, Genetic Association Studies, business.industry, Gestational age, Respiratory distress, Mutational analysis, GENE, Clinical feature, Dysplasia, Aspartic acid, ELSS - Earth, Life and Social Sciences, Healthy for Life, business

    وصف الملف: image/pdf; application/pdf

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    المصدر: Journal of Huntington's Disease. 4:99-105

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    المصدر: Repositorio EdocUR-U. Rosario
    Universidad del Rosario
    instacron:Universidad del Rosario

    وصف الملف: application/pdf

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    المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
    Universidade de São Paulo (USP)
    instacron:USP
    Scopus2-s2.0-85044616053
    Repositorio Institucional UTB
    Universidad Tecnológica de Bolívar
    instacron:Universidad Tecnológica de Bolívar

    وصف الملف: Recurso electrónico; application/pdf