Detalhe da pesquisa
1.
Malignant hyperthermia safety - A nationwide survey of publicly funded Swedish healthcare.
Acta Anaesthesiol Scand
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38566397
2.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Genet Med
; 24(11): 2296-2307, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066546
3.
Factors that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey.
Prenat Diagn
; 42(7): 934-946, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35476801
4.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
5.
Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals.
Prenat Diagn
; 41(6): 720-732, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33724493
6.
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.
Stroke
; 51(4): 1056-1063, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32172663
7.
Psychiatric genetic counseling: A mapping exercise.
Am J Med Genet B Neuropsychiatr Genet
; 180(8): 523-532, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222934
8.
The gynecological surveillance of women with Lynch syndrome in Sweden.
Gynecol Oncol
; 138(3): 717-22, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26177554
9.
The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders.
Sci Rep
; 13(1): 6904, 2023 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37106068
10.
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study.
Eur J Med Genet
; 66(8): 104805, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37406854
11.
Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients.
Am J Med Genet A
; 158A(4): 720-5, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22383218
12.
Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design.
PLoS One
; 17(1): e0261898, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35089945
13.
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.
PLoS One
; 17(2): e0264056, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35176117
14.
Mutation update for the PORCN gene.
Hum Mutat
; 32(7): 723-8, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21472892
15.
[The utility of whole genome sequencing in rare disease diagnostics]. / Helgenomanalys vid sällsynta diagnoser ger stor patientnytta.
Lakartidningen
; 1182021 05 10.
Artigo
em Sueco
| MEDLINE | ID: mdl-33973225
16.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Med
; 13(1): 40, 2021 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33726816
17.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Hum Mutat
; 31(10): 1142-54, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20672375
18.
HIF1alpha isoforms in benign and malignant prostate tissue and their correlation to neuroendocrine differentiation.
BMC Cancer
; 10: 385, 2010 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-20663134
19.
The expression of pluripotency marker Oct 3/4 in prostate cancer and benign prostate hyperplasia.
Prostate
; 69(9): 909-16, 2009 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19274762
20.
A stroke gene panel for whole-exome sequencing.
Eur J Hum Genet
; 27(2): 317-324, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30356112