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

العلاقة: https://www.dovepress.com/the-many-faces-of-arrhythmogenic-cardiomyopathy-an-overview-peer-reviewed-fulltext-article-TACGTest; https://doaj.org/toc/1178-704XTest

الوصول الحر: https://doaj.org/article/16f705dec43145a48fbb9bc98ec36743Test

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

الوصول الحر: https://doaj.org/article/e15c585946b44e8b8ff9c2b2ae98c543Test

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

الإتاحة: https://doi.org/10.3390/medicina58040500Test

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.

الوصول الحر: http://www.emeraldinsight.com/doi/10.1108/17530180200900021Test

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

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

الإتاحة: 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

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

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

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

الإتاحة: https://doi.org/10.1007/s12020-016-0956-zTest
http://hdl.handle.net/2434/449973Test

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