Zobrazeno 1 - 10 of 759 pro vyhledávání: '"Fokstuen, S"'
1
Akademický článek
Case report: desmoplakin cardiomyopathy presenting as an inflammatory cardiomyopathy with repeated sudden cardiac arrests.
Autor: Massie E; Cardiology Service, University Hospital of Geneva, Rue Gabrielle Perret-Gentil 4, 1205 Geneva, Switzerland., Dominati A; Division of Immunology and Allergy, Department of Medicine, University Hospitals of Geneva, Geneva, Switzerland., Suchet S; Service of Genetic Medicine, University Hospital of Geneva, Geneva, Switzerland., Carballo D; Cardiology Service, University Hospital of Geneva, Rue Gabrielle Perret-Gentil 4, 1205 Geneva, Switzerland., Hervier E; Cardiology Service, University Hospital of Geneva, Rue Gabrielle Perret-Gentil 4, 1205 Geneva, Switzerland., Fokstuen S; Service of Genetic Medicine, University Hospital of Geneva, Geneva, Switzerland., Seebach JD; Division of Immunology and Allergy, Department of Medicine, University Hospitals of Geneva, Geneva, Switzerland., Meyer P; Cardiology Service, University Hospital of Geneva, Rue Gabrielle Perret-Gentil 4, 1205 Geneva, Switzerland.
Publikováno v: European heart journal. Case reports [Eur Heart J Case Rep] 2024 Apr 03; Vol. 8 (4), pp. ytae160. Date of Electronic Publication: 2024 Apr 03 (Print Publication: 2024).
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2
Akademický článek
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage.
Autor: Fokstuen S; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Quteineh L; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland., Schwitzgebel VM; Pediatric Endocrine and Diabetes Unit, Department of Pediatrics, Gynecology and Obstetrics, Geneva University Hospitals, Geneva, Switzerland.; Diabetes Center of the Faculty of Medicine, University of Geneva, Geneva, Switzerland., Köhler-Ballan B; Department of Infectious Disease, Geneva University Hospitals, Geneva, Switzerland., Blouin JL; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Abramowicz M; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Nouspikel T; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Publikováno v: Clinical genetics [Clin Genet] 2023 Nov; Vol. 104 (5), pp. 505-515. Date of Electronic Publication: 2023 Jul 12.
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3
Report
Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment.
Autor: Zgheib O; Division of Genetic Medicine, Department of Diagnostics, Geneva University Hospitals, Geneva, Switzerland., Trombetti A; Division of Bone Diseases, Department of Medicine, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland., Juillerat A; Division of Internal Medicine, Department of Medicine, Geneva University Hospitals, Geneva, Switzerland., Fokstuen S; Division of Genetic Medicine, Department of Diagnostics, Geneva University Hospitals, Geneva, Switzerland.
Publikováno v: Child neurology open [Child Neurol Open] 2023 Aug 30; Vol. 10, pp. 2329048X231199327. Date of Electronic Publication: 2023 Aug 30 (Print Publication: 2023).
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4
Akademický článek
Evolution and triggers of defibrillator shocks in patients with arrhythmogenic right ventricular cardiomyopathy.
Autor: Molitor N; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland nadine.molitor@usz.ch ardan.saguner@usz.ch., Hofer D; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland., Çimen T; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland., Gasperetti A; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland.; Department of Medicine, Division of Cardiology, Johns Hopkins University, Baltimore, Maryland, US., Akdis D; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland.; Division of Cardiology, GZO - Regional Health Center, Wetzikon, Switzerland., Costa S; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland., Jenni R; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland., Breitenstein A; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland., Wolber T; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland.; Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland., Winnik S; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland., Fokstuen S; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland.; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève, Switzerland., Fu G; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland., Medeiros-Domingo A; Swiss DNAlysis Dübendorf, Zurich, Switzerland., Ruschitzka F; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland., Brunckhorst C; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland., Duru F; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland.; Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland., Saguner AM; Cardiology, Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland nadine.molitor@usz.ch ardan.saguner@usz.ch.
Publikováno v: Heart (British Cardiac Society) [Heart] 2023 Jul 12; Vol. 109 (15), pp. 1146-1152. Date of Electronic Publication: 2023 Jul 12.
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5
Akademický článek
[Rare causes of Hypophosphatemia: diagnostic approach].
Autor: Trombetti A; Service des maladies osseuses, Département de médecine, Hôpitaux universitaires de Genève, 1205 Genève.; Service de gériatrie, Département de réadaptation et gériatrie, Hôpitaux universitaires de Genève, 1226 Thônex., Fokstuen S; Service de médecine génétique, Hôpitaux universitaires de Genève, 1205 Genève., Parvex P; Unité de néphrologie et métabolisme pédiatrique, Unité universitaire romande de néphrologie pédiatrique, Hôpitaux universitaires de Genève, 1205 Genève.
Publikováno v: Revue medicale suisse [Rev Med Suisse] 2023 Apr 19; Vol. 19 (823), pp. 770-775.
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6
Akademický článek
Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families.
Autor: Molitor N; Department of Cardiology, University Heart Center Zurich, 8091 Zurich, Switzerland., Medeiros-Domingo A; Swiss DNAlysis, 8600 Dubendorf, Switzerland., Fokstuen S; Department of Cardiology, University Heart Center Zurich, 8091 Zurich, Switzerland.; Genetic Medicine Division, Diagnostic Department, Hôpitaux Universitaires de Genève, 1205 Geneva, Switzerland., Ruschitzka F; Department of Cardiology, University Heart Center Zurich, 8091 Zurich, Switzerland., Duru F; Department of Cardiology, University Heart Center Zurich, 8091 Zurich, Switzerland.; Center for Integrative Human Physiology (ZIHP), University of Zurich, 8006 Zurich, Switzerland., Saguner A; Department of Cardiology, University Heart Center Zurich, 8091 Zurich, Switzerland.
Publikováno v: Journal of clinical medicine [J Clin Med] 2022 Sep 24; Vol. 11 (19). Date of Electronic Publication: 2022 Sep 24.
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7
Akademický článek
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8
Akademický článek
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Autor: Marconi C; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland., Lemmens L; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland., Masclaux F; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland., Mattioli F; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland., Fluss J; Pediatric Specialties division, Department of Women, Children and Adolescents, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland., Extermann P; Prenatal Ultrasonography, Dianecho, Genève (CH), Switzerland., Mendez P; Obstetrics and Gynecology, Centre Médical Eaux-Vives, Genève (CH), Switzerland., Leuchter RH; Pediatric Specialties division, Department of Women, Children and Adolescents, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland., Stathaki E; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland., Laurent S; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland., Hammar E; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland., Vannier A; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland., Varvagiannis K; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland., Guipponi M; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.; Department of Genetic Medicine and Development, School of Medicine, University of Geneva, Genève (CH), Switzerland., Sloan-Bena F; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.; Department of Genetic Medicine and Development, School of Medicine, University of Geneva, Genève (CH), Switzerland., Blouin JL; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.; Department of Genetic Medicine and Development, School of Medicine, University of Geneva, Genève (CH), Switzerland., Abramowicz M; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.; Department of Genetic Medicine and Development, School of Medicine, University of Geneva, Genève (CH), Switzerland., Fokstuen S; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.; Department of Genetic Medicine and Development, School of Medicine, University of Geneva, Genève (CH), Switzerland.
Publikováno v: Clinical genetics [Clin Genet] 2021 Sep; Vol. 100 (3), pp. 329-333. Date of Electronic Publication: 2021 Jun 14.
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9
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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10
Akademický článek
Analyzing Cardiovascular Disease Research in the Arab Region: A Bibliometric Review From 2012 to 2022.
Autor: Bani Hani, Amjad1 (AUTHOR), Tarazi, Alaa2 (AUTHOR) alaatarazi11@gmail.com, Hamadneh, Yazan2 (AUTHOR), Al-Samahan, Ahmad2 (AUTHOR), Awad, Rami2 (AUTHOR), Kan'an, Mohammad2 (AUTHOR), Al-Kasaji, Mohammad2 (AUTHOR), Younes, Nidal A.1 (AUTHOR), Safarova, Maya (AUTHOR) msafarova@mcw.edu
Publikováno v: International Journal of Vascular Medicine. 10/12/2024, Vol. 2024, p1-10. 10p.
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