@article{76d3097a152b41429372b830f3dfc814,
title = "Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability",
keywords = "COPY-NUMBER VARIATION, DE-NOVO MUTATIONS, CORPUS-CALLOSUM, CANDIDATE GENES, CRITICAL REGION, DELETION, 1Q44, SEIZURES, ENCEPHALOPATHIES, ABNORMALITIES",
author = "Bramswig, {Nuria C.} and Hermann-Josef Luedecke and Hamdan, {Fadi F.} and Janine Altmueller and Filippo Beleggia and Elcioglu, {Nursel H.} and Catharine Freyer and Gerkes, {Erica H.} and Demirkol, {Yasemin Kendir} and Knupp, {Kelly G.} and Alma Kuechler and Yun Li and Lowenstein, {Daniel H.} and Michaud, {Jacques L.} and Kristen Park and Stegmann, {Alexander P. A.} and Veenstra-Knol, {Hermine E.} and Thomas Wieland and Bernd Wollnik and Hartmut Engels and Strom, {Tim M.} and Tjitske Kleefstra and Dagmar Wieczorek",
year = "2017",
month = jul,
doi = "10.1007/s00439-017-1795-6",
language = "English",
volume = "136",
pages = "821--834",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer",
number = "7",
}