المؤلفون: Hammarsjö, A., Pettersson, M., Chitayat, D., Handa, A., Anderlid, B. -M, Bartocci, M., Basel, D., Batkovskyte, D., Beleza-Meireles, A., Conner, P., Eisfeldt, J., Girisha, K. M., Chung, B. H. -Y, Horemuzova, E., Hyodo, H., Korņejeva, L., Lagerstedt-Robinson, K., Lin, A. E., Magnusson, M., Moosa, S., Nayak, S. S., Nilsson, D., Ohashi, H., Ohashi-Fukuda, N., Stranneheim, H., Taylan, F., Traberg, R., Voss, U., Wirta, Valtteri, Nordgren, A., Nishimura, G., Lindstrand, A., Grigelioniene, G.

المصدر: Journal of Human Genetics. 66(10):995-1008

مصطلحات موضوعية: c2cd3 protein, complementary DNA, dync2h1 protein, evc protein, evc2 protein, genomic DNA, ift74 protein, kiaa0753 protein, protein, ttc21b protein, unclassified drug, wdr19 protein, C2cd3 protein, human, cytoplasmic dynein, cytoskeleton protein, DYNC2H1 protein, EVC protein, EVC2 protein, isoprotein, KIAA0753 protein, membrane protein, microtubule associated protein, signal peptide, TTC21B protein, WDR19 protein, adolescent, adult, amino terminal sequence, Article, asphyxiating thoracic dystrophy, blood sampling, child, chondrodysplasia, chromosome 1q, chromosome 1q24q25, ciliopathy, clinical article, clinical feature, cohort analysis, comparative genomic hybridization, computer model, controlled study, copy number variation, cranioectodermal dysplasia, developmental delay, diagnostic value, DNA extraction, DNA sequencing, DNA splicing, Ellis van Creveld syndrome, exon, female, fetus, fetus lung, gene deletion, gene expression, gene sequence, genetic screening, human tissue, infant, Joubert syndrome, lung parenchyma, male, molecular diagnosis, nephronophthisis, newborn, pedigree, phenotype, preschool child, retrospective study, RNA analysis, school child, short rib polydactyly syndrome type 3, single nucleotide polymorphism, skeleton malformation, transcription initiation site, whole exome sequencing, whole genome sequencing, aged, bone dysplasia, genetic predisposition, genetics, high throughput sequencing, human genome, metabolism, middle aged, pathology, skeletal muscle, Bone Diseases, Developmental, Ciliopathies, Cytoplasmic Dyneins, Cytoskeletal Proteins, Genetic Predisposition to Disease, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Intercellular Signaling Peptides and Proteins, Intracellular Signaling Peptides and Proteins, Membrane Proteins, Microtubule-Associated Proteins, Muscle, Skeletal, Protein Isoforms

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-309162Test
https://doi.org/10.1038/s10038-021-00925-xTest

المؤلفون: Homan, F.M., Kardaun, S.H., Schuttelaar, M.L.A.

المصدر: Homan , F M , Kardaun , S H & Schuttelaar , M L A 2017 , ' Mycoplasma geassocieerde rash en mucositis, een nieuwe entiteit? ' , Nederlands Tijdschrift voor Dermatologie en Venereologie , vol. 27 , no. 6 , pp. 330-333 . < http://www.nvdv.nl/wp-content/uploads/2017/08/Mycoplasma-geassocieerde-rash-en-mucositis-een-nieuwe-entiteit-FM-Homan-NTvDV-2017-06.pdfTest >

مصطلحات موضوعية: azithromycin, prednisolone, article, case report, child, clinical feature, conjunctivitis, coughing, disease severity, dyspnea, fever, genital mucositis, histopathology, human, male, medical history, mucosa inflammation, Mycoplasma, Mycoplasma pneumoniae, nonhuman, oral mucositis, polymerase chain reaction, rash, school child, serology, Stevens Johnson syndrome

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/658fdf03-3949-45d1-84bb-533ec9461649Test

الإتاحة: https://hdl.handle.net/11370/658fdf03-3949-45d1-84bb-533ec9461649Test
https://research.rug.nl/en/publications/658fdf03-3949-45d1-84bb-533ec9461649Test
https://pure.rug.nl/ws/files/97635808/Mycoplasma_geassocieerde_rash_en_mucositis_een_nieuwe_entiteit_FM_Homan_NTvDV_2017_06.pdfTest
http://www.nvdv.nl/wp-content/uploads/2017/08/Mycoplasma-geassocieerde-rash-en-mucositis-een-nieuwe-entiteit-FM-Homan-NTvDV-2017-06.pdfTest

المؤلفون: Pelliccia, Veronica, Avanzini, Pietro, Rizzi, Michele, Caruana, Fausto, Tassi, Laura, Francione, Stefano, Gozzo, Francesca, Mariani, Valeria, d'Orio, Piergiorgio, Castana, Laura, Mai, Roberto, Terzaghi, Michele, Nobili, Lino, Sartori, Ivana

المساهمون: Pelliccia, Veronica, Avanzini, Pietro, Rizzi, Michele, Caruana, Fausto, Tassi, Laura, Francione, Stefano, Gozzo, Francesca, Mariani, Valeria, D'Orio, Piergiorgio, Castana, Laura, Mai, Roberto, Terzaghi, Michele, Nobili, Lino, Sartori, Ivana

مصطلحات موضوعية: adolescent, adult, anterior cingulate, Article, child, cingulate epilepsy, cingulate gyru, clinical feature, electroencephalogram, epilepsy, female, human, major clinical study, male, posterior cingulate, preschool child, retrospective study, school child, seizure, young adult, cohort analysi, complication, electroencephalography, focal epilepsy, frontal lobe epilepsy

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35190463; info:eu-repo/semantics/altIdentifier/wos/WOS:000884404400004; volume:98; issue:22; firstpage:e2211; lastpage:e2223; numberofpages:12; journal:NEUROLOGY; https://hdl.handle.net/11571/1474765Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85129004206; https://n.neurology.org/content/98/22/e2211.longTest

الإتاحة: https://doi.org/10.1212/WNL.0000000000200145Test
https://hdl.handle.net/11571/1474765Test
https://n.neurology.org/content/98/22/e2211.longTest

المؤلفون: Külcü, Duygu Geler, Akpınar, F. Merih, Atalay, Nilgün Şimşir, Yıldız, Necmettin, Öztürk, Gülcan, Karataş, Gülçin Kaymak, Paker, Nurdan, Altındağ, Özlem, Demir, Saliha Eroğlu, Kaya, Erkan, Uçar, Demet, Gündüz, Berrin, Özkan, Feyza Ünlü, Öncü, Jülide, Aktaş, İlknur, Bardak, Ayşenur, Tuncer, Tiraje, Yılmaz, Figen, Eskiyurt, Nurten, Erhan, Belgin, Şirzai, Hülya, Çelik, Berna, Durlanık, Gülgün, Doğu, Beril, Buğdaycı, Derya Soy, Sarı, Aylin, Taşkıran, Özden Özyemişçi, Tıkız, Canan, SAVAŞ, Serpil, Yalıman, Ayşe, Özgirgin, Neşe, Karahan, Ali Yavuz, Kuran, Banu, BAŞARAN, SİBEL, Hüner, Berrin, Şatır, Özlem

المساهمون: İstinye Üniversitesi, Hastane, Sirzai, Hulya, Taşkıran, Özden Özyemişçi (ORCID 0000-0002-2052-6072 & YÖK ID 133091), Külcü, D.G., Kuran, B., Karahan, A.Y., Özgirgin, N., Başaran, S., Yalıman, A., Savaş, S., Tıkız, C., Aktaş, İ., Bardak, A., Tuncer, T., Yılmaz, F., Erhan, B., Şirzai, H., Çelik, B., Durlanık, G., Doğu, B., Öncü, J., Hüner, B., Öztürk, G., Eskiyurt, N., Akpınar, F.M., Özkan, F.Ü., Paker, N., Buğdaycı, D.S., Gündüz, B., Şatır, Ö., Atalay, N.Ş., Yıldız, N., Altındağ, Ö., Demir, S.E., Kaya, E., Uçar, D., Sarı, A., Karataş, G.K, School of Medicine

المصدر: Turkish Journal of Physical Medicine and Rehabilitation

مصطلحات موضوعية: cognition, Turkey, retrospective study, very elderly, prevalence, bladder dysfunction, Physical Therapy, Sports Therapy and Rehabilitation, functional status, Article, male, demographics, middle aged, Barthel index, controlled study, human, Rehabilitation, Stroke, sociodemographics, brain disease, Demography, stroke rehabilitation, child, mental test, adult, questionnaire, stroke patient, rehabilitation medicine, cohort analysis, daily life activity, school child, functional disease, major clinical study, body mass, brain ischemia, clinical feature, aged, comorbidity, female, multicenter study, quality of life, risk factor, adolescent, depression, young adult, cerebrovascular accident, disease duration, mental health, hospitalization

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21f40755236dccc03b7261648a984bdcTest
https://hdl.handle.net/20.500.12645/37639Test

المؤلفون: Kouz, K., Lissewski, C., Spranger, S., Mitter, D., Riess, A., Lopez-Gonzalez, V., Zenker, M.

مصطلحات موضوعية: hypertrophic cardiomyopathy, Noonan syndrome, oncogenic mutations, RAS-MAPK signaling pathway, RASopathies, adolescent, adult, Article, child, clinical article, clinical feature, codon, female, gene, gene mutation, genetic association, genetic variability, genotype phenotype correlation, germline mutation, human, infant, lymphatic system disease, male, middle aged, missense mutation, preschool child, RIT1 gene, school child, congenital heart malformation, genetic association study

العلاقة: Genetics in Medicine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1038/gim.2016.32Test; https://hdl.handle.net/20.500.11776/9111Test; 18; 12; 1226; 1234; 2-s2.0-85000839255

الإتاحة: https://doi.org/20.500.11776/9111Test
https://doi.org/10.1038/gim.2016.32Test
https://hdl.handle.net/20.500.11776/9111Test

المؤلفون: Çoban, Melis, Ergin, Åženiz, TaÅŸlı, Mehmet Levent, Acer, Semra, Demirkan Çallı, NeÅŸe

مصطلحات موضوعية: Blood vessels, Child, Elastic fibers, Pseudoxanthoma elasticum, Retina, Skin, Article, case report, clinical examination, clinical feature, histopathology, human, human tissue, male, neck rash, papule, school child

العلاقة: Turk Dermatoloji Dergisi; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/9964Test; https://doi.org/10.4274/tdd.1853Test; 195; 197; 2-s2.0-84949216886; WOS:000366970300007

الإتاحة: https://doi.org/10.4274/tdd.1853Test
https://hdl.handle.net/11499/9964Test

المؤلفون: Balkarli, A., Cetin, G.Y., Öksüz, A.N., Kimyon, G., Pehlivan, Y., Kisacik, B., Orhan, O.

مصطلحات موضوعية: Depression, Colchicine resistance, Familial mediterranean fever, Treatment, colchicine, abdominal pain, adolescent, amyloidosis, arthritis, Article, Beck Depression Inventory, child, clinical feature, controlled study, disease duration, erythema, female, hematuria, human, leg pain, major clinical study, male, medication compliance, onset age, patient compliance, proteinuria, school child, thorax pain, adult, complication

العلاقة: Revista Brasileira de Reumatologia; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/7790Test; https://doi.org/10.1016/j.rbre.2014.03.022Test; 54; 356; 359; 2-s2.0-85016507609; WOS:000347185600004

الإتاحة: https://doi.org/10.1016/j.rbre.2014.03.022Test
https://hdl.handle.net/11499/7790Test

المؤلفون: Cengiz Candan, Bora Gülhan, Ayşe Ağbaş, Seha Saygili, Fehime Kara Eroglu, Mutlu Hayran, Harika Alpay, Zeynep Birsin Özçakar, Emine Atayar, Alper Soylu, Selçuk Yüksel, Oguz Soylemezoglu, Fatih Ozaltin, Gulsah Ozdemir, Ali Duzova, Belde Kasap Demir, Rezan Topaloglu

مصطلحات موضوعية: Nephrology, demography, glomerulus filtration rate, Biopsy, genotype, retrospective study, DNA Mutational Analysis, COL4A5 gene, 030232 urology & nephrology, Nephritis, Hereditary, genetic analysis, 030204 cardiovascular system & hematology, Kidney, urologic and male genital diseases, Autoantigens, COL4A mutations, survival analysis, 0302 clinical medicine, Focal segmental glomerulosclerosis, rituximab, oncogene, Cyclosporin a, Medicine, gene mutation, tacrolimus, child, family history, medicine.diagnostic_test, Glomerulosclerosis, Focal Segmental, disease course, COL4A4 gene, autosomal recessive inheritance, genetic screening, chronic kidney failure, Prognosis, cohort analysis, female, priority journal, risk factor, Child, Preschool, laboratory test, Disease Progression, histopathology, focal glomerulosclerosis, Collagen Type IV, medicine.medical_specialty, Adolescent, phenotype, kidney biopsy, Nephrotic syndrome, Article, 03 medical and health sciences, male, Internal medicine, Humans, follow up, controlled study, Genetic Testing, cyclosporine, human, Alport syndrome, Risk factor, Renal Insufficiency, Chronic, Genetic Association Studies, COL4A3 gene, Genetic testing, Retrospective Studies, business.industry, mycophenolate mofetil, medicine.disease, school child, major clinical study, human tissue, clinical feature, Cyclosporin A, Pediatrics, Perinatology and Child Health, Mutation, cyclophosphamide, business, Kidney disease, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1be8e9d496555e6775770c95fdec9f0eTest
https://avesis.deu.edu.tr/publication/details/a3ecaa5d-449d-4203-95ea-ea9e03007e05/oaiTest

المؤلفون: Zoroquiain Vélez, José Pablo, Carvajal, D., Zúñiga, S., Bolados, C., González Bombardiere, Sergio

مصطلحات موضوعية: Paediatric soft tissue tumour, Parachordoma, Tumour of the hand, Article, Case report, Child, Chordoma, Clinical feature, Hand parachordoma, Hand tumor, Human, Male, Postoperative period, School child, Tumor growth, Tumor recurrence, Medicina y salud

الوقت: 610

وصف الملف: 4 páginas; application/pdf

العلاقة: https://repositorio.uc.cl/handle/11534/27412Test

الإتاحة: https://doi.org/10.1016/j.patol.2011.06.004Test
https://repositorio.uc.cl/handle/11534/27412Test

المؤلفون: Civelek, E., Buyuktiryaki, A.B., Can, D., Orhan, F., Aydogan, M., Reisli, I., Keskin, O.

مصطلحات موضوعية: Emergency Department, acute asthma, GINA, hospitalization, modified pulmonary index score, corticosteroid, acute disease, article, asthma, child, clinical feature, disease severity, emergency care, female, Global Initiative for Asthma, human, major clinical study, male, practice guideline, predictive value, preschool child, priority journal, school child, scoring system, sensitivity and specificity, Adolescent, Preschool, Emergency Service, Hospital, Glucocorticoids

العلاقة: Journal of Emergency Medicine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/8131Test; https://doi.org/10.1016/j.jemermed.2012.10.015Test; 44; 919; 927; 2-s2.0-84877577956; WOS:000318916200012

الإتاحة: https://doi.org/10.1016/j.jemermed.2012.10.015Test
https://hdl.handle.net/11499/8131Test