المؤلفون: Chee Y. Ooi, Rosie Sutherland, Carlo Castellani, Katherine Keenan, Margaret Boland, Joe Reisman, Candice Bjornson, Mark A. Chilvers, Richard van Wylick, Steven Kent, April Price, Dimas Mateos-Corral, Daniel Hughes, Melinda Solomon, Peter Zuberbuhler, Janna Brusky, Peter R. Durie, Felix Ratjen, Tanja Gonska

المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: CF screen positive inconclusive diagnosis (CFSPID), CFTR-related metabolic syndrome (CRMS), Newborn screening, Sweat test, Trypsinogen, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12887-019-1756-4Test; https://doaj.org/toc/1471-2431Test

الوصول الحر: https://doaj.org/article/7b7dc0389d05407d9f20efd82bd3212fTest

المؤلفون: Deepika Polineni, Annalisa V Piccorelli, William B Hannah, Sarah N Dalrymple, Rhonda G Pace, Peter R Durie, Simon C Ling, Michael R Knowles, Jaclyn R Stonebraker

المصدر: PLoS ONE, Vol 13, Iss 10, p e0205257 (2018)

مصطلحات موضوعية: Medicine, Science

العلاقة: http://europepmc.org/articles/PMC6181334?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/d610d9ed73a640a49d3eeb82b2a77946Test

الإتاحة: https://doi.org/10.1371/journal.pone.0205257Test
https://doaj.org/article/d610d9ed73a640a49d3eeb82b2a77946Test

المؤلفون: Melinda Solomon, Peter R. Durie, Mark A. Chilvers, Richard van Wylick, Steven Kent, Margaret Boland, Katherine Keenan, Tanja Gonska, Dimas Mateos-Corral, Janna Brusky, Peter Zuberbuhler, Rosie Sutherland, Candice Bjornson, Chee Y. Ooi, Daniel Hughes, Felix Ratjen, April Price, Carlo Castellani, Joe Reisman

المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-7 (2019)
BMC Pediatrics
Paediatrics Publications

مصطلحات موضوعية: Newborn screening, medicine.medical_specialty, Pancreatic disease, Cystic Fibrosis, Cystic fibrosis, Gastroenterology, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, Interquartile range, 030225 pediatrics, Internal medicine, Medicine, Humans, Immunoreactive trypsinogen, Longitudinal Studies, Prospective Studies, Prospective cohort study, CFTR-related metabolic syndrome (CRMS), Sweat test, medicine.diagnostic_test, business.industry, fungi, Infant, Newborn, lcsh:RJ1-570, lcsh:Pediatrics, medicine.disease, CF screen positive inconclusive diagnosis (CFSPID), Trypsinogen, 030228 respiratory system, Pediatrics, Perinatology and Child Health, embryonic structures, Metabolic syndrome, business, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f1de14acba72a1b6722685d54bc82b3Test
http://link.springer.com/article/10.1186/s12887-019-1756-4Test

المؤلفون: Marina E Tourlakis, Siyi Zhang, Heather L Ball, Rikesh Gandhi, Hongrui Liu, Jian Zhong, Julie S Yuan, Cynthia J Guidos, Peter R Durie, Johanna M Rommens

المصدر: PLoS Genetics, Vol 11, Iss 6, p e1005288 (2015)

مصطلحات موضوعية: Genetics, QH426-470

العلاقة: http://europepmc.org/articles/PMC4461263?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test; https://doaj.org/article/856671ca104e4135a514d8fa8c538e54Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1005288Test
https://doaj.org/article/856671ca104e4135a514d8fa8c538e54Test

المؤلفون: Lindsay B Henderson, Vishal K Doshi, Scott M Blackman, Kathleen M Naughton, Rhonda G Pace, Jackob Moskovitz, Michael R Knowles, Peter R Durie, Mitchell L Drumm, Garry R Cutting

المصدر: PLoS Genetics, Vol 8, Iss 3, p e1002580 (2012)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3305406?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/45751a0fa02245bd8f517a51a44e5351Test

المؤلفون: Cystic Fibrosis, Daina Kalnins, Lynda Ellis, Kmary Corey, Paul B. Pencharz, Cynthia Stewart, Elizabeth Tullis, Peter R. Durie

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://fundacionfibrosisquistica.org/guias_articulos/2006/enzimas+bicarbonato-FQ-marzo-2006.pdfTest.

مصطلحات موضوعية: Wilkins

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.656.5973Test; http://fundacionfibrosisquistica.org/guias_articulos/2006/enzimas+bicarbonato-FQ-marzo-2006.pdfTest

الإتاحة: http://fundacionfibrosisquistica.org/guias_articulos/2006/enzimas+bicarbonato-FQ-marzo-2006.pdfTest

المؤلفون: Christopher L. Bowlus, Sören Mucha, Piotr Milkiewicz, Jennifer G. Sambrook, Michael P. Manns, Peter R. Durie, Daniel J. Gaffney, Catalina Coltescu, Konstantinos N. Lazaridis, David Ellinghaus, Daniel Gotthardt, George F. Mells, Espen Melum, Joseph A. Odin, Mattias Laudes, Cisca Wijmenga, Kris V. Kowdley, Annarosa Floreani, Tejas S. Shah, Richard Sandford, Erik M. Schlicht, Kirsten Muri Boberg, Javier Gutierrez-Achury, Felix Braun, Martina Sterneck, Carl A. Anderson, Tom H. Karlsen, Andre Franke, Velimir A. Luketic, Brijesh Srivastava, Aliya Gulamhusein, Elizabeth C. Goode, Kelly Spiess, Gunnar Jacobs, Olivier Chazouillères, Wolfgang Lieb, Tobias Müller, Andreas Teufel, Trine Folseraas, Roger W. Chapman, Hanns-Ulrich Marschall, David J. Roberts, Christoph Schramm, Sun-Gou Ji, Albert Parés, Mariza de Andrade, Stefan Schreiber, Elizabeth J. Atkinson, Kimmo Kontula, Pietro Invernizzi, Simon M. Rushbrook, Luke Jostins, Carmel Moore, Naga Chalasani, Jimmy Z. Liu, Brian D. Juran, Willem H. Ouwehand, Graeme J.M. Alexander, John E. Eaton, Gideon M. Hirschfield, Natsuhiko Kumasaka, Martti Färkkilä, Annika Bergquist, Kapil B. Chopra, John Danesh, Bertus Eksteen, Tobias J. Weismüller, Rinse K. Weersma, Ulrich Beuers, Severine Vermeire

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Gastroenterology and Hepatology, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Ji, S, Juran, B, Mucha, S, Folseraas, T, Jostins, L, Melum, E, Kumasaka, N, Atkinson, E, Schlicht, E, Liu, J, Shah, T, Gutierrez Achury, J, Boberg, K, Bergquist, A, Vermeire, S, Eksteen, B, Durie, P, Farkkila, M, Müller, T, Schramm, C, Sterneck, M, Weismüller, T, Gotthardt, D, Ellinghaus, D, Braun, F, Teufel, A, Laudes, M, Lieb, W, Jacobs, G, Beuers, U, Weersma, R, Wijmenga, C, Marschall, H, Milkiewicz, P, Pares, A, Kontula, K, Chazouillères, O, Invernizzi, P, Goode, E, Spiess, K, Moore, C, Sambrook, J, Ouwehand, W, Roberts, D, Danesh, J, Floreani, A, Gulamhusein, A, Eaton, J, Schreiber, S, Coltescu, C, Bowlus, C, Luketic, V, Odin, J, Chopra, K, Kowdley, K, Chalasani, N, Manns, M, Srivastava, B, Mells, G, Sandford, R, Alexander, G, Gaffney, D, Chapman, R, Hirschfield, G, de Andrade, M, Rushbrook, S, Franke, A, Karlsen, T, Lazaridis, K, Anderson, C, Universitat de Barcelona

المصدر: Nature genetics
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature genetics, 49(2), 269-273. Nature Publishing Group
Nature Genetics, 49(2), 269-273. Nature Publishing Group
Dipòsit Digital de la UB
Universidad de Barcelona

مصطلحات موضوعية: 0301 basic medicine, Genome-wide association study, VARIANTS, Bioinformatics, Gastroenterology, Inflammatory bowel disease, 0302 clinical medicine, Risk Factors, Gastroenterologia, education.field_of_study, digestive, oral, and skin physiology, REGIONS, Ulcerative colitis, Inflamació, 3. Good health, Malalties inflamatòries intestinals, ULCERATIVE-COLITIS, 030211 gastroenterology & hepatology, medicine.medical_specialty, SUSCEPTIBILITY LOCI, Population, Cholangitis, Sclerosing, Locus (genetics), Biology, Inflammatory bowel diseases, digestive system, Polymorphism, Single Nucleotide, Article, Primary sclerosing cholangitis, 03 medical and health sciences, Internal medicine, REVEALS, Genetics, medicine, SNP, Humans, RNA, Messenger, Allele, TRANSCRIPTOME, education, METAANALYSIS, Alleles, Adaptor Proteins, Signal Transducing, Inflammation, medicine.disease, Inflammatory Bowel Diseases, digestive system diseases, 030104 developmental biology, PSORIATIC-ARTHRITIS, Colitis, Ulcerative, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e616bfb58aa70eae7a4f7dc8d1af15daTest
http://europepmc.org/articles/PMC5540332Test

المؤلفون: Peter R Durie

المصدر: Canadian Journal of Gastroenterology, Vol 11, Iss 2, Pp 145-152 (1997)

مصطلحات موضوعية: Diseases of the digestive system. Gastroenterology, RC799-869

العلاقة: http://dx.doi.org/10.1155/1997/137618Test; https://doaj.org/toc/0835-7900Test; https://doaj.org/article/98d47d41b66c4675b7f19a7f2ab65330Test

الإتاحة: https://doi.org/10.1155/1997/137618Test
https://doaj.org/article/98d47d41b66c4675b7f19a7f2ab65330Test

المؤلفون: MD Peter R Durie

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://downloads.hindawi.com/journals/cjgh/1997/137618.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1050.5240Test; http://downloads.hindawi.com/journals/cjgh/1997/137618.pdfTest

الإتاحة: http://downloads.hindawi.com/journals/cjgh/1997/137618.pdfTest

المؤلفون: Peter R. Durie, Simon C. Ling, Sarah N. Dalrymple, Jaclyn R. Stonebraker, Deepika Polineni, Rhonda G. Pace, Annalisa V. Piccorelli, William B. Hannah, Michael R. Knowles

المصدر: PLoS ONE, Vol 13, Iss 10, p e0205257 (2018)
PLoS ONE

مصطلحات موضوعية: Liver Cirrhosis, Male, Cirrhosis, Pulmonology, Cystic Fibrosis, medicine.medical_treatment, Pulmonary Function, lcsh:Medicine, Liver transplantation, Severity of Illness Index, Gastroenterology, Cystic fibrosis, Diagnostic Radiology, Pulmonary function testing, Liver disease, 0302 clinical medicine, Forced Expiratory Volume, Medicine and Health Sciences, Respiratory Analysis, Child, lcsh:Science, Lung, education.field_of_study, Multidisciplinary, medicine.diagnostic_test, Liver Diseases, Radiology and Imaging, Portal Hypertension, respiratory system, Magnetic Resonance Imaging, Bioassays and Physiological Analysis, Liver, Genetic Diseases, Female, 030211 gastroenterology & hepatology, Research Article, Adult, Spirometry, medicine.medical_specialty, Adolescent, Imaging Techniques, Population, Surgical and Invasive Medical Procedures, Gastroenterology and Hepatology, Research and Analysis Methods, Digestive System Procedures, Young Adult, 03 medical and health sciences, Autosomal Recessive Diseases, Diagnostic Medicine, Internal medicine, Hypertension, Portal, medicine, Humans, education, Retrospective Studies, Clinical Genetics, Transplantation, business.industry, lcsh:R, Case-control study, Biology and Life Sciences, Organ Transplantation, medicine.disease, Fibrosis, Liver Transplantation, respiratory tract diseases, 030228 respiratory system, Case-Control Studies, lcsh:Q, business, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6be3b8ebca6d3a931b0caf0b97cc23bTest
http://europepmc.org/articles/PMC6181334?pdf=renderTest