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001     155692
005     20230915092337.0
024 7 _ |a 10.1055/s-0041-1726306
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037 _ _ |a DZNE-2021-00860
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Gburek-Augustat, Janina
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245 _ _ |a Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.
260 _ _ |a Stuttgart [u.a.]
|c 2021
|b Thieme
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520 _ _ |a New 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.
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588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
650 _ 2 |a Genetic Testing
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Phenotype
|2 MeSH
700 1 _ |a Schoene-Bake, Jan-Christoph
|b 1
700 1 _ |a Bültmann, Eva
|b 2
700 1 _ |a Haack, Tobias
|b 3
700 1 _ |a Buchert, Rebecca
|b 4
700 1 _ |a Synofzik, Matthis
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700 1 _ |a Biskup, Saskia
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700 1 _ |a Feuerhake, Friedrich
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700 1 _ |a Sorge, Ina
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700 1 _ |a Hartmann, Hans
|b 9
773 _ _ |a 10.1055/s-0041-1726306
|g Vol. 52, no. 4, p. 274 - 283
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|t Neuropediatrics
|v 52
|y 2021
|x 1439-1899
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