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1دورية أكاديمية
المؤلفون: Tadros HJ, Miyake CY, Kearney DL, Kim JJ, Denfield SW
المصدر: The Application of Clinical Genetics, Vol Volume 16, Pp 181-203 (2023)
مصطلحات موضوعية: arrhythmias, arrhythmogenic cardiomyopathy, cardiomyopathy, genotype-to-phenotype correlation, pediatrics., Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Zhou Shu, Yue Zhang, Tongxin Han, Yan Li, Yurong Piao, Fei Sun, Jin Ma, Wenxiu Mo, Jiapeng Sun, Koon-Wing Chan, Wanling Yang, Yu-Lung Lau, Huawei Mao
المصدر: Frontiers in Immunology, Vol 14 (2023)
مصطلحات موضوعية: cryopyrin-associated periodic syndrome, genotype and phenotype correlation, novel mutation, Canakinumab, somatic mosaicism mutation, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1267933/fullTest; https://doaj.org/toc/1664-3224Test
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3دورية أكاديمية
المؤلفون: Ruta Navardauskaite, Kristina Semeniene, Marius Sukys, Agne Pridotkaite, Aurika Vanckaviciene, Birute Zilaitiene, Rasa Verkauskiene
المصدر: Medicina; Volume 58; Issue 4; Pages: 500
مصطلحات موضوعية: CAH, congenital adrenal hyperplasia, cardiometabolic, insulin resistance, genotype and phenotype correlation
وصف الملف: application/pdf
العلاقة: Endocrinology; https://dx.doi.org/10.3390/medicina58040500Test
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4دورية أكاديمية
المؤلفون: Kolaitis, Gerasimos, Papanikolaou, Katerina, Paliokosta, Elena, Tsiantis, John, Gyftodimou, Yolanda, Sarri, Catherine, Petersen, Michael, Kokotas, Haris
المصدر: Advances in Mental Health and Learning Disabilities, 2009, Vol. 3, Issue 2, pp. 48-52.
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المؤلفون: Lorbek, Gregor
المساهمون: Karas Kuželički, Nataša
مصطلحات موضوعية: tiopurini, tiopurini tiopurin-S-metiltransferaza S-adenozilmetionin merjenje koncentracij RP-HPLC, RP-HPLC, merjenje koncentracij, tiopurin-S-metiltransferaza, Thiopurine-S-methyltransferase S-adenosylmethionine genotype to phenotype correlation multiple linear regression high-performance liquid chromatography, udc:61, S-adenozilmetionin
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6a0a072d2509f63ae71f45d5212e908eTest
https://repozitorij.uni-lj.si/IzpisGradiva.php?id=121336Test -
6رسالة جامعية
المؤلفون: Lorbek, Gregor
المساهمون: Karas Kuželički, Nataša
مصطلحات موضوعية: tiopurini tiopurin-S-metiltransferaza S-adenozilmetionin merjenje koncentracij RP-HPLC, Thiopurine-S-methyltransferase S-adenosylmethionine genotype to phenotype correlation multiple linear regression high-performance liquid chromatography, info:eu-repo/classification/udc/61
وصف الملف: application/pdf
العلاقة: https://repozitorij.uni-lj.si/IzpisGradiva.php?id=121337Test; https://repozitorij.uni-lj.si/Dokument.php?id=136252&dnTest=; https://plus.si.cobiss.net/opac7/bib/2812273?lang=slTest
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7
المؤلفون: Beatrice Rubin, Elisa Taschin, Franco Grimaldi, Carla Scaroni, Daniela Regazzo, F. Pecori Giraldi, Marco Boscaro, Nora Albiger, Alfonso Massimiliano Ferrara, Antonio Stigliano, Silvia Rizzati, Giorgio Arnaldi, E. De Menis, Maurizio Iacobone, Filippo Ceccato, Gianluca Occhi, Lidia Cerquetti
المصدر: Endocrine. 55:959-968
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Primary bilateral macronodular adrenal hyperplasia, Genotype to phenotype correlation, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, medicine.disease_cause, ARMC5, Gastroenterology, Germline, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Germline mutation, Internal medicine, Adrenal Glands, Genotype, medicine, Humans, Family history, Germ-Line Mutation, Aged, Cushing’s syndrome, Armadillo Domain Proteins, Mutation, Adrenal Hyperplasia, Congenital, business.industry, Tumor Suppressor Proteins, Middle Aged, Hyperplasia, medicine.disease, Phenotype, Pedigree, Diabetes and Metabolism, 030220 oncology & carcinogenesis, Macronodular Adrenal Hyperplasia, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80b29740c1b104730c389fc50fb5a40dTest
https://doi.org/10.1007/s12020-016-0956-zTest -
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المؤلفون: Jil C. Tardiff, Corrado Poggesi, Iacopo Olivotto, Franco Cecchi, Sara Bardi, Sharlene M. Day, Benedetta Tomberli, Francesca Torricelli, Carolyn Y. Ho, Raffaele Coppini, Alessandro Mugelli, Cecilia Ferrantini, Francesca Girolami, Euan A. Ashley
المصدر: Journal of the American College of Cardiology
مصطلحات موضوعية: Male, Pathology, HCM, hypertrophic cardiomyopathy, TNNT2, TPM1, TNNT2, cardiac troponin T gene, 030204 cardiovascular system & hematology, Gene mutation, Severity of Illness Index, LVH, left ventricular hypertrophy, Ventricular Dysfunction, Left, 0302 clinical medicine, CMR, cardiac magnetic resonance, Medicine, end-stage, genotype to phenotype correlation, Original Investigation, 0303 health sciences, LGE, late gadolinium enhancement, biology, troponin, diastolic function, Hypertrophic cardiomyopathy, MYBPC3, myosin binding protein C, Middle Aged, MAP Kinase Kinase Kinases, ICD, implantable cardioverter-defibrillator, 3. Good health, Actin Cytoskeleton, Italy, TNNI3, cardiac troponin I gene, Heart Function Tests, Ventricular Fibrillation, Disease Progression, Cardiology, Female, Cardiology and Cardiovascular Medicine, Adult, medicine.medical_specialty, AF, atrial fibrillation, macromolecular substances, Protein Serine-Threonine Kinases, Ventricular Outflow Obstruction, TNNI3, ECG, electrocardiography, 03 medical and health sciences, Troponin T, Internal medicine, triphasic filling, Humans, Genetic Predisposition to Disease, NYHA, New York Heart Association, LV, left ventricular, 030304 developmental biology, business.industry, TPM1, cardiac α-tropomyosin gene, Cardiomyopathy, Hypertrophic, medicine.disease, Actin cytoskeleton, HR, hazard ratio, Troponin, Actins, ACTC, cardiac α-actin gene, Patient Outcome Assessment, Death, Sudden, Cardiac, NSVT, nonsustained ventricular tachycardia, SCD, sudden cardiac death, Mutation, biology.protein, MYH7, myosin heavy chain, MYH7, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af01bcd7ae48ebe1022905181d348ff5Test
https://doi.org/10.1016/j.jacc.2014.09.059Test -
9دورية أكاديمية
المؤلفون: N. M. Albiger, D. Regazzo, B. Rubin, A. M. Ferrara, S. Rizzati, E. Taschin, F. Ceccato, G. Arnaldi, A. Stigliano, L. Cerquetti, F. Grimaldi, E. de Menis, M. Boscaro, M. Iacobone, G. Occhi, C. Scaroni, F. Pecori Giraldi
المساهمون: N.M. Albiger, D. Regazzo, B. Rubin, A.M. Ferrara, S. Rizzati, E. Taschin, F. Ceccato, G. Arnaldi, F. Pecori Giraldi, A. Stigliano, L. Cerquetti, F. Grimaldi, E. de Meni, M. Boscaro, M. Iacobone, G. Occhi, C. Scaroni
مصطلحات موضوعية: ARMC5, Primary bilateral macronodular adrenal hyperplasia, Cushing's syndrome, Genotype to phenotype correlation, Settore MED/13 - Endocrinologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27094308; info:eu-repo/semantics/altIdentifier/wos/WOS:000394966900033; volume:55; issue:3; firstpage:959; lastpage:968; numberofpages:10; journal:ENDOCRINE; http://hdl.handle.net/2434/449973Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84964329705
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10دورية أكاديمية
المؤلفون: Albiger, N. M., Regazzo, D., Rubin, B., Ferrara, A. M., Rizzati, S., Taschin, E., Ceccato, F., Arnaldi, G., Pecori Giraldi, F., Grimaldi, F., de Menis, E., Boscaro, M., Iacobone, M., Occhi, G, Scaroni, C., STIGLIANO, Antonio, CERQUETTI, LIDIA
المساهمون: Albiger, N. M., Regazzo, D., Rubin, B., Ferrara, A. M., Rizzati, S., Taschin, E., Ceccato, F., Arnaldi, G., Pecori Giraldi, F., Stigliano, Antonio, Cerquetti, Lidia, Grimaldi, F., de Menis, E., Boscaro, M., Iacobone, M., Occhi, G, Scaroni, C.
مصطلحات موضوعية: ARMC5, Cushing’s syndrome, Genotype to phenotype correlation, Primary bilateral macronodular adrenal hyperplasia, Endocrinology, Diabetes and Metabolism
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27094308; info:eu-repo/semantics/altIdentifier/wos/WOS:000394966900033; firstpage:1; lastpage:10; numberofpages:10; journal:ENDOCRINE; http://hdl.handle.net/11573/870001Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84964329705; http://www.springer.com/humana+press/journal/12020Test
الإتاحة: https://doi.org/10.1007/s12020-016-0956-zTest
http://hdl.handle.net/11573/870001Test
http://www.springer.com/humana+press/journal/12020Test