000155692 001__ 155692
000155692 005__ 20230915092337.0
000155692 0247_ $$2doi$$a10.1055/s-0041-1726306
000155692 0247_ $$2pmid$$apmid:33791999
000155692 0247_ $$2ISSN$$a0028-3797
000155692 0247_ $$2ISSN$$a0077-7811
000155692 0247_ $$2ISSN$$a0174-304X
000155692 0247_ $$2ISSN$$a1439-1899
000155692 0247_ $$2altmetric$$aaltmetric:103144565
000155692 037__ $$aDZNE-2021-00860
000155692 041__ $$aEnglish
000155692 082__ $$a610
000155692 1001_ $$aGburek-Augustat, Janina$$b0
000155692 245__ $$aPitfalls in Genetic Diagnostics: Why Phenotyping is Essential.
000155692 260__ $$aStuttgart [u.a.]$$bThieme$$c2021
000155692 3367_ $$2DRIVER$$aarticle
000155692 3367_ $$2DataCite$$aOutput Types/Journal article
000155692 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1630577342_2004
000155692 3367_ $$2BibTeX$$aARTICLE
000155692 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000155692 3367_ $$00$$2EndNote$$aJournal Article
000155692 520__ $$aNew genetic testing technologies have revolutionized medicine within the past years. It is foreseeable that the development will continue with the introduction of new techniques. Nevertheless, despite improved technology, an exact clinical description of the phenotype is still necessary and it is important to critically question findings, both before initiating genetic testing and when interpreting the results. We present four brief case vignettes to point out difficulties associated with correctly interpreting genetic findings.
000155692 536__ $$0G:(DE-HGF)POF4-353$$a353 - Clinical and Health Care Research (POF4-353)$$cPOF4-353$$fPOF IV$$x0
000155692 588__ $$aDataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
000155692 650_2 $$2MeSH$$aGenetic Testing
000155692 650_2 $$2MeSH$$aHumans
000155692 650_2 $$2MeSH$$aPhenotype
000155692 7001_ $$aSchoene-Bake, Jan-Christoph$$b1
000155692 7001_ $$aBültmann, Eva$$b2
000155692 7001_ $$aHaack, Tobias$$b3
000155692 7001_ $$aBuchert, Rebecca$$b4
000155692 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b5$$udzne
000155692 7001_ $$0P:(DE-2719)9000027$$aBiskup, Saskia$$b6$$udzne
000155692 7001_ $$aFeuerhake, Friedrich$$b7
000155692 7001_ $$aSorge, Ina$$b8
000155692 7001_ $$aHartmann, Hans$$b9
000155692 773__ $$0PERI:(DE-600)2041654-4$$a10.1055/s-0041-1726306$$gVol. 52, no. 4, p. 274 - 283$$n4$$p274 - 283$$tNeuropediatrics$$v52$$x1439-1899$$y2021
000155692 909CO $$ooai:pub.dzne.de:155692$$pVDB
000155692 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2811275$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b5$$kDZNE
000155692 9101_ $$0I:(DE-HGF)0$$6P:(DE-2719)9000027$$aExternal Institute$$b6$$kExtern
000155692 9130_ $$0G:(DE-HGF)POF3-345$$1G:(DE-HGF)POF3-340$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lErkrankungen des Nervensystems$$vPopulation Studies and Genetics$$x0
000155692 9131_ $$0G:(DE-HGF)POF4-353$$1G:(DE-HGF)POF4-350$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lNeurodegenerative Diseases$$vClinical and Health Care Research$$x0
000155692 9141_ $$y2021
000155692 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2021-02-03
000155692 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2021-02-03
000155692 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2021-02-03
000155692 915__ $$0StatID:(DE-HGF)0420$$2StatID$$aNationallizenz$$d2022-11-22$$wger
000155692 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2022-11-22
000155692 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2022-11-22
000155692 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2022-11-22
000155692 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2022-11-22
000155692 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2022-11-22
000155692 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine$$d2022-11-22
000155692 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2022-11-22
000155692 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bNEUROPEDIATRICS : 2021$$d2022-11-22
000155692 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2022-11-22
000155692 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2022-11-22
000155692 915__ $$0StatID:(DE-HGF)9900$$2StatID$$aIF < 5$$d2022-11-22
000155692 9201_ $$0I:(DE-2719)1210000$$kAG Gasser 1$$lParkinson Genetics$$x0
000155692 980__ $$ajournal
000155692 980__ $$aVDB
000155692 980__ $$aI:(DE-2719)1210000
000155692 980__ $$aUNRESTRICTED