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De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Lot Snijders Blok; Susan M. Hiatt; Kevin M. Bowling; Jeremy W. Prokop; Krysta L. Engel; J. Nicholas Cochran; E. Martina Bebin; Emilia K. Bijlsma; Claudia A. L. Ruivenkamp; Paulien Terhal; Marleen E. H. Simon; Rosemarie Smith; Jane A. Hurst; Heather McLaughlin; Richard Person; Amy Crunk; Michael F. Wangler; Haley Streff; Joseph D. Symonds; Sameer M. Zuberi; Katherine S. Elliott; Victoria R. Sanders; Abigail Masunga; Robert J. Hopkin; Holly A. Dubbs; Xilma R. Ortiz-Gonzalez; Rolph Pfundt; Han G. Brunner; Simon E. Fisher; Tjitske Kleefstra; Gregory M. Cooper
Human Genetics · Vol. 137, Issue 5 · pp. 375-388 · 2018

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2018-05-01
Publication Year2018
Volume137
Issue5
Pages375-388
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-018-1887-y

Access Information

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