Detalhe da pesquisa
1.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31031012
2.
Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.
Hum Mutat
; 41(1): 196-202, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31498527
3.
Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.
BMC Med Genet
; 15: 12, 2014 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24444136
4.
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.
BMC Med Genet
; 14: 94, 2013 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24053775
5.
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Eur J Hum Genet
; 31(12): 1421-1429, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37704779
6.
A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.
Ann Neurol
; 80(2): 311-2, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27273810
7.
Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence.
Neuromuscul Disord
; 28(8): 639-645, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30001926
8.
Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene.
Neuromuscul Disord
; 22(6): 511-21, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22475618