المؤلفون: Sarah Belin, Cristina Delco, Paloma Parvex, Sylviane Hanquinet, Siv Fokstuen, Begoña Martinez de Tejada, Isabelle Eperon

المصدر: Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Abdominal dystocia, Autosomal recessive renal polycystic kidney disease, Delivery, Management, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1752-1947Test

الوصول الحر: https://doaj.org/article/d7a6a01b0eca4814b7f3f85510f4ed97Test

المؤلفون: Nadine Molitor, Argelia Medeiros-Domingo, Siv Fokstuen, Frank Ruschitzka, Firat Duru, Ardan Saguner

المصدر: Journal of Clinical Medicine, Vol 11, Iss 19, p 5625 (2022)

مصطلحات موضوعية: Brugada syndrome, channelopathy, SCN5A, arrhythmogenic right ventricular cardiomyopathy, overlapping syndrome, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/11/19/5625Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/4ac2be53ceb24dac9b67a417aa0bc012Test

المؤلفون: Argelia Medeiros-Domingo, Stephan A. Bolliger, Christoph Gräni, Claudine Rieubland, Deborah Hersch, Babken Asatryan, Christian Schyma, Ardan M. Saguner, Daniel Wyler, Zahir Bhuiyan, Florence Fellmann, Antonio M. Osculati, Rebekka Ringger, Siv Fokstuen, Sara Sabatasso, Matthias Wilhelm, Katarzyna Michaud, for the Swiss Working Group on Sudden Cardiac Death

المصدر: Swiss Medical Weekly, Vol 148, Iss 2728 (2018)

مصطلحات موضوعية: Sudden Cardiac Death, genetic counselling, autopsy, Molecular autopsy, Medicine

وصف الملف: electronic resource

العلاقة: https://www.smw.ch/index.php/smw/article/view/2490Test; https://doaj.org/toc/1424-3997Test

الوصول الحر: https://doaj.org/article/8b8751baa9c6447f85f9a28680ce6f8dTest

المؤلفون: Matthias Wilhelm, Stephan A Bolliger, Christine Bartsch, Siv Fokstuen, Christoph Gräni, Viktor Martos, Argelia Medeiros Domingo, Antonio Osculati, Claudine Rieubland, Sara Sabatasso, Ardan M Saguner, Christian Schyma, Joelle Tschui, Daniel Wyler, Zahurul A. Bhuiyan, Florence Fellmann, Katarzyna Michaud

المصدر: Swiss Medical Weekly, Vol 145, Iss 2526 (2015)

مصطلحات موضوعية: Sudden Cardiac Death, forensic autopsy, post-mortem genetic testing, genetic counselling, Medicine

وصف الملف: electronic resource

العلاقة: https://www.smw.ch/index.php/smw/article/view/2043Test; https://doaj.org/toc/1424-3997Test

الوصول الحر: https://doaj.org/article/d4da4b863400405aa73dbb12182d84f4Test

المؤلفون: Omar Zgheib MD, PhD, Andrea Trombetti MD, André Juillerat MM, Siv Fokstuen MD

المصدر: Child Neurology Open, Vol 10 (2023)

مصطلحات موضوعية: Pediatrics, RJ1-570, Neurology. Diseases of the nervous system, RC346-429

العلاقة: https://doi.org/10.1177/2329048X231199327Test; https://doaj.org/toc/2329-048XTest; https://doaj.org/article/add621097e0340628810bf4ba5dba0a9Test

الإتاحة: https://doi.org/10.1177/2329048X231199327Test
https://doaj.org/article/add621097e0340628810bf4ba5dba0a9Test

المؤلفون: Siv Fokstuen, Frédérique Sloan-Béna, Elissavet Stathaki, Frédéric Masclaux, Francesca Mattioli, Caterina Marconi, Konstantinos Varvagiannis, Russia Ha-Vinh Leuchter, Michel Guipponi, Anne Vannier, Jean-Louis Blouin, Philippe Extermann, Laure Lemmens, Sacha Laurent, Purificacion Mendez, Joel Victor Fluss, Marc Abramowicz, Eva Hammar

المصدر: Clinical Genetics
Clinical genetics, Vol. 100, No 3 (2021) pp. 329-333

مصطلحات موضوعية: Male, 0301 basic medicine, Genetic counseling, Short Report, Protein Array Analysis, Vesicular Transport Proteins, Loss of Heterozygosity, 030105 genetics & heredity, Biology, loss of function mutation, Consanguinity, 03 medical and health sciences, Exon, Short Reports, Exome Sequencing, Genetics, medicine, Humans, Missense mutation, ddc:576.5, RNA, Messenger, ERGIC1, Promoter Regions, Genetic, Exome, Genetics (clinical), Loss function, ddc:616, Arthrogryposis, Whole genome sequencing, whole genome sequencing, ddc:618, Homozygote, Infant, Phenotype, 030104 developmental biology, Loss of function mutation, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4742e1fdc94da8a2c8eee878b5b7ea40Test
https://doi.org/10.1111/cge.14004Test

المؤلفون: Nadine Molitor, Daniel Hofer, Tolga Çimen, Alessio Gasperetti, Deniz Akdis, Sarah Costa, Rolf Jenni, Alexander Breitenstein, Thomas Wolber, Stephan Winnik, Siv Fokstuen, Guan Fu, Argelia Medeiros-Domingo, Frank Ruschitzka, Corinna Brunckhorst, Firat Duru, Ardan M Saguner

المصدر: Heart. :heartjnl-2022

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::42bfcb806e9028c0752951ca400e35f1Test
https://doi.org/10.1136/heartjnl-2022-321739Test

المؤلفون: Joel Victor Fluss, Eva Hammar, Marc Abramowicz, Michel Guipponi, Anne Vannier, Philippe Extermann, Russia Ha-Vinh Leuchter, Frédérique Sloan-Béna, Frédéric Masclaux, Caterina Marconi, Laure Lemmens, Elissavet Stathaki, Purificacion Mendez, Francesca Mattioli, Sacha Laurent, Siv Fokstuen, Jean-Louis Blouin, Konstantinos Varvagiannis

مصطلحات موضوعية: Arthrogryposis, Genetics, medicine, Biology, medicine.symptom, Allelic loss

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7e3cef2f3ccf250ad5bd4695039e9b07Test
https://doi.org/10.1111/cge.14004/v2/response1Test

المؤلفون: Françoise Devillard, Marie Bidart, Véronique Satre, Pierre-Simon Jouk, Pauline Le Tanno, Frédérique Béna, Pierre F. Ray, Klaus Dieterich, Ida Vogel, Julie Breton, Maria Antonietta Pisanti, Charles Coutton, Hervé Sartelet, Luisa Mackenroth, Siv Fokstuen, M. C. Digilio, Fitsum Guebre-Egziabher, Alexia Apostolou, Karl Hackmann, C Bosson, Rikke Christensen, Sylvie Odent, Antonio Novelli, Radu Harbuz, Rachel Beddow, Gemma Poke, Laura Bernardini, Sylvie Jaillard, Gaëlle Vieville, Florence Amblard

المصدر: Le Tanno, P, Breton, J, Bidart, M, Satre, V, Harbuz, R, Ray, P F, Bosson, C, Dieterich, K, Jaillard, S, Odent, S, Poke, G, Beddow, R, Digilio, M C, Novelli, A, Bernardini, L, Pisanti, M A, Mackenroth, L, Hackmann, K, Vogel, I, Christensen, R, Fokstuen, S, Béna, F, Amblard, F, Devillard, F, Vieville, G, Apostolou, A, Jouk, P-S, Guebre-Egziabher, F, Sartelet, H & Coutton, C 2017, ' PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans ', Journal of Medical Genetics, vol. 54, no. 7, pp. 502-510 . https://doi.org/10.1136/jmedgenet-2016-104435Test

مصطلحات موضوعية: 0301 basic medicine, Genetics, Fetus, Pregnancy, Pathology, medicine.medical_specialty, Kidney, Microarray analysis techniques, Urinary system, Genetic counseling, 030105 genetics & heredity, Biology, medicine.disease, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, Journal Article, medicine, Copy-number variation, Haploinsufficiency, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66666cd0586cface1fed31d3f6b63bf4Test
https://doi.org/10.1136/jmedgenet-2016-104435Test

المؤلفون: Samia Hurst, Celine Moret, Alex Mauron, Siv Fokstuen, Periklis Makrythanasis

المصدر: Journal of Medical Ethics, Vol. 43, No 5 (2017) pp. 346-349

مصطلحات موضوعية: 0301 basic medicine, ddc:174.957, Health (social science), Process (engineering), media_common.quotation_subject, 030105 genetics & heredity, 03 medical and health sciences, Arts and Humanities (miscellaneous), Common Criteria, Terminology as Topic, Humans, Medicine, Genetic Predisposition to Disease, High likelihood, Genetic Testing, media_common, Incidental Findings, business.industry, Health Policy, Interpretation (philosophy), Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Clinical Practice, Issues, ethics and legal aspects, business, Social psychology, Autonomy, Cognitive psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a8d245399f4c96c7ff1a715a0d278f9Test
https://doi.org/10.1136/medethics-2016-103677Test