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Träfflista för sökning "WFRF:(Carrier M.) "

Search: WFRF:(Carrier M.)

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  • Arbustini, E, et al. (author)
  • Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics
  • 2022
  • In: European heart journal. - : Oxford University Press (OUP). - 1522-9645 .- 0195-668X. ; 43:20, s. 1901-
  • Journal article (peer-reviewed)abstract
    • This document describes the contribution of clinical criteria to the interpretation of genetic variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist cardiologists in defining the clinical contribution to a genetic diagnosis and the interpretation of molecular genetic reports. The identification of a genetic variant of unknown or uncertain significance is a limitation of genetic testing, but current guidelines for the interpretation of genetic variants include essential contributions from clinical family screening that can establish a de novo assignment of the variant or its segregation with the phenotype in the family. A partnership between clinicians and patients helps to solve major uncertainties and provides reliable and clinically actionable information.
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  • Result 1-10 of 34
Type of publication
journal article (31)
conference paper (3)
Type of content
peer-reviewed (30)
other academic/artistic (4)
Author/Editor
Carrier, M. (17)
Cohen, AT (8)
Becattini, C. (7)
Ekbom, A (7)
Rivera, M (7)
Brobert, G. (7)
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Abdelgawwad, K (7)
Psaroudakis, G (7)
Khorana, AA (7)
Coleman, CI (7)
Rizwan, Muhammad (6)
Alm, Charlotte (6)
Oberzaucher, Elisabe ... (6)
Lindholm, Torun (6)
Pisanski, Katarzyna (6)
Láng, András (6)
Lee, AYY (6)
Conroy-Beam, Daniel (6)
Buss, David M. (6)
Asao, Kelly (6)
Sorokowska, Agnieszk ... (6)
Sorokowski, Piotr (6)
Aavik, Toivo (6)
Akello, Grace (6)
Amjad, Naumana (6)
Anjum, Afifa (6)
Atama, Chiemezie S. (6)
Ayebare, Richard (6)
Bendixen, Mons (6)
Bensafia, Aicha (6)
Bizumic, Boris (6)
Boussena, Mahmoud (6)
Butovskaya, Marina (6)
Can, Seda (6)
Cantarero, Katarzyna (6)
Carrier, Antonin (6)
Cetinkaya, Hakan (6)
Czub, Marcin (6)
Dronova, Daria (6)
Dural, Seda (6)
Duyar, Izzet (6)
Ertugrul, Berna (6)
Espinosa, Agustin (6)
Frackowiak, Tomasz (6)
Guemaz, Farida (6)
Herak, Iskra (6)
Hromatko, Ivana (6)
Hui, Chin-Ming (6)
Jiang, Feng (6)
Kafetsios, Konstanti ... (6)
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University
Karolinska Institutet (21)
Stockholm University (8)
Lund University (4)
University of Gothenburg (3)
Linköping University (3)
Umeå University (2)
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Swedish University of Agricultural Sciences (2)
Luleå University of Technology (1)
RISE (1)
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Language
English (34)
Research subject (UKÄ/SCB)
Natural sciences (8)
Social Sciences (6)
Medical and Health Sciences (3)
Engineering and Technology (1)

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