Search details
1.
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Hum Mutat
; 43(6): 708-716, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35192731
2.
Vision-Based Tracking of Surgical Motion During Live Open-Heart Surgery.
J Surg Res
; 271: 106-116, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34879315
3.
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
J Hum Genet
; 66(10): 995-1008, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-33875766
4.
Loqusdb: added value of an observations database of local genomic variation.
BMC Bioinformatics
; 21(1): 273, 2020 Jul 01.
Article
in English
| MEDLINE | ID: mdl-32611382
5.
Positron emission tomography visualized stimulation of the vestibular organ is localized in Heschl's gyrus.
Hum Brain Mapp
; 41(1): 185-193, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31520516
6.
Exploring the effects of deep brain stimulation and vision on tremor in Parkinson's disease - benefits from objective methods.
J Neuroeng Rehabil
; 17(1): 56, 2020 04 25.
Article
in English
| MEDLINE | ID: mdl-32334622
7.
Different Visual Weighting due to Fast or Slow Vestibular Deafferentation: Before and after Schwannoma Surgery.
Neural Plast
; 2019: 4826238, 2019.
Article
in English
| MEDLINE | ID: mdl-30911290
8.
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
Am J Hum Genet
; 94(1): 23-32, 2014 Jan 02.
Article
in English
| MEDLINE | ID: mdl-24360809
9.
MultiQC: summarize analysis results for multiple tools and samples in a single report.
Bioinformatics
; 32(19): 3047-8, 2016 10 01.
Article
in English
| MEDLINE | ID: mdl-27312411
10.
Hearing and Vestibular Function After Preoperative Intratympanic Gentamicin Therapy for Vestibular Schwanomma as Part of Vestibular Prehab.
Ear Hear
; 37(6): 744-750, 2016.
Article
in English
| MEDLINE | ID: mdl-27438868
11.
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
J Med Genet
; 52(11): 779-83, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26084283
12.
Vestibular Rehabilitation Affects Vestibular Asymmetry among Patients with Fall-Related Wrist Fractures - A Randomized Controlled Trial.
Gerontology
; 61(4): 310-8, 2015.
Article
in English
| MEDLINE | ID: mdl-25471256
13.
The incidence of acute gastrointestinal illness in Sweden.
Scand J Public Health
; 43(5): 540-7, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25969165
14.
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
BMC Genomics
; 15: 1090, 2014 Dec 11.
Article
in English
| MEDLINE | ID: mdl-25495354
15.
Long-term linguistic outcome in adults with congenital cytomegalovirus infection.
Infect Dis (Lond)
; 56(1): 32-41, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37795972
16.
Expression of insulin signalling components in the sensory epithelium of the human saccule.
Cell Tissue Res
; 352(3): 469-78, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23584706
17.
Vestibular asymmetry predicts falls among elderly patients with multi-sensory dizziness.
BMC Geriatr
; 13: 77, 2013 Jul 22.
Article
in English
| MEDLINE | ID: mdl-23875891
18.
Experimentally induced deep cervical muscle pain distorts head on trunk orientation.
Eur J Appl Physiol
; 113(10): 2487-99, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23812089
19.
Subthalamic deep brain stimulation improves smooth pursuit and saccade performance in patients with Parkinson's disease.
J Neuroeng Rehabil
; 10: 33, 2013 Apr 03.
Article
in English
| MEDLINE | ID: mdl-23551890
20.
Betahistine prevents development of endolymphatic hydrops in a mouse model of insulin resistance and diabetes.
Acta Otolaryngol
; 143(2): 127-133, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36735299