N. Knoers

发表

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

J A Veltman, W Cahn, R A Ophoff, 2008, Molecular Psychiatry.

Human syndromes with congenital patellar anomalies and the underlying gene defects

E. Bongers, A. van Kampen, H. van Bokhoven, 2005, Clinical genetics.

Physiology and pathophysiology of aquaporins

C. van Os, S. Mulders, A. V. van Lieburg, 1996, European journal of clinical investigation.

Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis

R. Sinke, H. Scheffer, D. Lindhout, 2002, Neurology.

Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.

S. Scherer, P. Taschner, A. Odermatt, 1997, Genomics.

Male patients affected by mosaic PCDH19 mutations: five new cases

P. Rump, D. Lindhout, M. Kriek, 2017, neurogenetics.

Congenital myopathy caused by a novel missense mutation in the CFL2 gene

R. Pfundt, N. Alfen, A. Beggs, 2012, Neuromuscular Disorders.

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

H. J. Schelhaas, B. P. Van de Warrenburg, H. Scheffer, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

G. Matthijs, H. Scheffer, S. Vermeer, 2007, Journal of Neurology.

Decreased bone density and treatment in patients with autosomal recessive cutis laxa

E. Morava, S. Funke, Z. Urban, 2009, Acta paediatrica.