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Sökning: onr:"swepub:oai:gup.ub.gu.se/282232" > International multi...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004148naa a2200709 4500
001oai:gup.ub.gu.se/282232
003SwePub
008240910s2019 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:141288879
024a https://gup.ub.gu.se/publication/2822322 URI
024a https://doi.org/10.1002/ajmg.c.317212 DOI
024a http://kipublications.ki.se/Default.aspx?queryparsed=id:1412888792 URI
040 a (SwePub)gud (SwePub)ki
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
100a Dahan-Oliel, N.4 aut
2451 0a International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita
264 c 2019-07-07
264 1b Wiley,c 2019
520 a Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in-depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus-based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653 a annotation
653 a arthrogryposis multiplex congenita
653 a collaboration
653 a definition
653 a expert opinion
653 a distal arthrogryposis
653 a diagnostic-approach
653 a fetal hypokinesia
653 a muscular-atrophy
653 a united-states
653 a contractures
653 a amyoplasia
653 a classification
653 a scoliosis
653 a genetics
653 a Genetics & Heredity
700a Cachecho, S.4 aut
700a Barnes, D.4 aut
700a Bedard, T.4 aut
700a Davison, A. M.4 aut
700a Dieterich, K.4 aut
700a Donohoe, M.4 aut
700a Fafara, A.4 aut
700a Hamdy, R.4 aut
700a Hjartarson, H. T.4 aut
700a Hoffman, N. S.4 aut
700a Kimber, Eva,d 1951u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xkimev
700a Komolkin, I.4 aut
700a Lester, R.4 aut
700a Ponten, E.u Karolinska Institutet4 aut
700a van Bosse, H. J. P.4 aut
700a Hall, J. G.4 aut
710a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för pediatrik4 org
773t American Journal of Medical Genetics Part C-Seminars in Medical Geneticsd : Wileyg 181:3, s. 288-299q 181:3<288-299x 1552-4868x 1552-4876
856u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.c.31721
8564 8u https://gup.ub.gu.se/publication/282232
8564 8u https://doi.org/10.1002/ajmg.c.31721
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:141288879

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