Marielle M. Swinkels
Utrecht, UT, Netherlands
Last Updated: 09/26/2026
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Found 9 publications
Loss-of-function variants of SCN8A in intellectual disability without seizures.
Journal: Neurology. Genetics
Published: March 10, 2017
Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.
Journal: Molecular syndromology
Published: October 27, 2016
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Journal: Neurology
Published: May 12, 2016
Central 22q11.2 deletions.
Journal: American journal of medical genetics. Part A
Published: March 05, 2014
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.
Journal: European journal of human genetics : EJHG
Published: March 29, 2013
Structural genomic variation in childhood epilepsies with complex phenotypes.
Journal: European journal of human genetics : EJHG
Published: January 27, 2013
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
Journal: American journal of human genetics
Published: July 03, 2012
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
Journal: European journal of human genetics : EJHG
Published: April 05, 2012
Unstable transmission of a familial complex chromosome rearrangement.
Journal: American journal of medical genetics. Part A
Published: March 14, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026