Detalhe da pesquisa
1.
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
Brain
; 139(Pt 8): 2154-63, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259757
2.
Survival of patients with BRCA1-associated breast cancer diagnosed in an MRI-based surveillance program.
Breast Cancer Res Treat
; 139(1): 155-61, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23615785
3.
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).
Neuromuscul Disord
; 33(2): 119-132, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36522254
4.
[A 50-year-old man with proximal pareses and heart disease]. / En mann i 50-årene med proksimal kraftsvikt og hjertesykdom.
Tidsskr Nor Laegeforen
; 137(16)2017 09 05.
Artigo
em Norueguês
| MEDLINE | ID: mdl-28871726
5.
Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene.
Neuromuscul Disord
; 32(1): 75-79, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34922802
6.
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.
JIMD Rep
; 63(3): 193-198, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35433169
7.
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
J Med Genet
; 47(9): 579-85, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20587412
8.
The prevalence of hereditary neuromuscular disorders in Northern Norway.
Brain Behav
; 11(1): e01948, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33185984
9.
Causes of hearing impairment in the Norwegian paediatric cochlear implant program.
Int J Audiol
; 49(8): 596-605, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20553101
10.
A Middle-Aged Man Presenting With Progressive Heart Failure, Myopathy, and Monoclonal Gammopathy of Uncertain Significance.
JACC Case Rep
; 2(5): 785-789, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34317348
11.
Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
Sci Rep
; 9(1): 19986, 2019 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31882575
12.
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
Arch Neurol
; 62(10): 1582-6, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16216942
13.
[DNA-based diagnostics of long QT syndrome]. / Genteknologisk diagnostikk av lang QT-tid-syndrom.
Tidsskr Nor Laegeforen
; 125(20): 2783-6, 2005 Oct 20.
Artigo
em Norueguês
| MEDLINE | ID: mdl-16244680
14.
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
J Neurol
; 260(6): 1504-10, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23329375
15.
Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.
Neuromuscul Disord
; 21(1): 41-6, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20961759
16.
High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series.
Hered Cancer Clin Pract
; 8(1): 2, 2010 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-20180971
17.
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
Am J Hum Genet
; 72(2): 478-87, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12529855