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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1432-1203

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder ; volume:137 ; number:5 ; day:8 ; month:5 ; year:2018 ; pages:375-388 ; date:5.2018
Human genetics ; 137, Heft 5 (8.5.2018), 375-388, 5.2018

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

DOI: 10.1007/s00439-018-1887-y

URN: urn:nbn:de:101:1-2018080520003316202684

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Last update: 15.08.2025, 7:35 AM CEST

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Associated

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

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

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Other Objects (12)

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Prediction of Neurodevelopmental Disorders Based on De Novo Coding Variation

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Mediator

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