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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

Nuria C. Bramswig; Hermann-Josef Lüdecke; Yasemin Alanay; Beate Albrecht; Alexander Barthelmie; Koray Boduroglu; Diana Braunholz; Almuth Caliebe; Krystyna H. Chrzanowska; Johanna Christina Czeschik; Sabine Endele; Elisabeth Graf; Encarna Guillén-Navarro; Pelin Özlem Simsek Kiper; Vanesa López-González; Ilaria Parenti; Jelena Pozojevic; Gulen Eda Utine; Thomas Wieland; Frank J. Kaiser; Bernd Wollnik; Tim M. Strom; Dagmar Wieczorek
Human Genetics · Vol. 134, Issue 6 · pp. 553-568 · 2015

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2015-06-01
Publication Year2015
Volume134
Issue6
Pages553-568
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-015-1535-8

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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