Cohort profile: The vitamin A and D and nitric oxide (AD-ON) observational cohort on lung development and symptoms in premature and mature children in North …

FEM Goth, BJ Schmidt, K Juul, P Albertsen, L Agertoft… - BMJ open, 2022 - bmjopen.bmj.com
… , urine and blood samples for biobank storage or immediate … for pulmonary hypertension and
structural cardiac abnormalities.… for the positive and negative control, and the most common …

Identification of genetic risk factors of severe COVID-19 using extensive phenotypic data: A proof-of-concept study in a cohort of Russian patients

SG Shcherbak, AI Changalidi, YA Barbitoff… - Genes, 2022 - mdpi.com
… unenhanced lung CT scan (noted as multiple lobular abnormalities … exome probe set (Roche,
Switzerland), according to the … of our variants in the UK Biobank data. Importantly, all of the …

Factors influencing harmonized health data collection, sharing and linkage in Denmark and Switzerland: a systematic review

LD Geneviève, A Martani, MC Mallet, T Wangmo… - PloS one, 2019 - journals.plos.org
better understanding of the aetiology of illnesses and subsequently help in improving the
management… bibliographic databases namely PubMed, Web of Science (all databases), …

260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands

S Spendiff, Y Dong, L Maggi, PMR Cruz… - Neuromuscular …, 2023 - Elsevier
abnormalities and there is a need to recognise the multisystem involvement with some CMS
genes which pose challenges to management … of submitting samples to biobanks was also …

Assessing the consequences of gestational diabetes mellitus on offspring's cardiovascular health: MySweetHeart Cohort study protocol, Switzerland

S Di Bernardo, Y Mivelaz, AM Epure, Y Vial… - BMJ open, 2017 - bmjopen.bmj.com
… increased risk of congenital cardiac malformations and cardiac … All samples will be managed
and stored in a biobank. The … management for gestational diabetes for improving maternal …

Interpreting genetic variants in titin in patients with muscle disorders

M Savarese, L Maggi, A Vihola, PH Jonson… - JAMA …, 2018 - jamanetwork.com
… chain (MyHC) serves as the loading control. Ctrl indicates … /Swiss-PdbViewer, version 4.1.0
(GlaxoSmithKline R&D and … muscular weakness and gait abnormalities with frequent falling. …

The effects of coagulation factors on the risk of endometriosis: a Mendelian randomization study

Y Li, H Liu, S Ye, B Zhang, X Li, J Yuan, Y Du, J Wang… - BMC medicine, 2023 - Springer
… through a stringent quality control procedure to select eligible … As a result of the MR analyses
in the UK Biobank cohort, we … epithelial mutations and epigenetic abnormalities. In order to …

Genetic determinants of the acute respiratory distress syndrome

E Suarez-Pajes, E Tosco-Herrera… - Journal of Clinical …, 2023 - mdpi.com
… use of other approaches leveraging multi-trait studies, and studies involving larger and
genetically diverse cohorts anticipate promising advances to better understand and treat ARDS. …

The human extracellular matrix diseasome reveals genotype–phenotype associations with clinical implications for age-related diseases

C Statzer, K Luthria, A Sharma, MG Kann, CY Ewald - Biomedicines, 2023 - mdpi.com
… of species from more than 30 different databases [5]. … −6 from the UK Biobank, which consists
of more than 2000 … Neuronal migration and glial abnormalities due to dysfunctional reelin …

247th ENMC International Workshop: Muscle magnetic resonance imaging-Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts …

J Warman-Chardon, J Diaz-Manera, G Tasca… - Neuromuscular …, 2020 - Elsevier
… Many subgroups such as muscular dystrophies and congenital … both brain and muscle
abnormalities with this technique. … Robust quality control processes are necessary at every stage …