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Epilepsia, ISSN 0013-9580, 08/2012, Volume 53, Issue 8, pp. 1387 - 1398
Journal Article
Nature genetics, ISSN 1061-4036, 12/2014, Volume 46, Issue 12, pp. 1327 - 1332
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 12/2017, Volume 143, Issue 5, pp. 507 - 522
Journal Article
Exceptional Children, ISSN 0014-4029, 1/2016, Volume 82, Issue 2, pp. 209 - 233
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2015, Volume 47, Issue 4, pp. 393 - 399
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2016, Volume 11, Issue 3, p. e0150426
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 09/2019
Hartsfield syndrome is a rare clinical entity characterized by holoprosencephaly and ectrodactyly with the variable feature of cleft lip/palate. In addition to... 
Journal Article
Neurology, ISSN 0028-3878, 06/2016, Volume 86, Issue 23, pp. 2171 - 2178
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2012, Volume 49, Issue 6, pp. 391 - 399
Journal Article
PLoS ONE, 03/2016, Volume 11, Issue 3
Objective The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of... 
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2012, Volume 49, Issue 6, p. 391
In a three year prospective study disease activity variables and levels of antibody against the RNP-peptides 70K and A were measured in 18 patients with mixed... 
Journal Article