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ISSN 0022-3050, 2018
Objectives: To examine the influence of GBA mutation carrier state on age at onset of PD, the motor phenotype and cognitive function at baseline assessment in... 
PRoBaND clinical consortium
Journal Article
Behavioural Brain Research, ISSN 0166-4328, 01/2016, Volume 296, pp. 61 - 69
•A systematic review and meta-analysis based on nine case-control studies and one cohort study.•Association between maternal autoimmune diseases and the risk... 
Maternal | Autism | Offspring | Autoimmune diseases | Meta-analysis | MOTHERS | AUTOANTIBODIES | ACTIVATION | HYPERACTIVITY | NEUROSCIENCES | CHILDREN | PREGNANCY | HETEROGENEITY | PUBLICATION BIAS | BEHAVIORAL SCIENCES | ASSOCIATION | PROBANDS | Risk factors | Prevention | Communicable diseases | Thyroid diseases | Epidemiology
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2017, Volume 1666, pp. 211 - 232
Data used to study human genetics are often not obtained by simple random sampling, which is assumed by many statistical methods, especially those that are... 
Sequential sampling | Catchment area | Complete ascertainment | Proband-dependent sampling | Proband | Pseudo-likelihood | Single ascertainment | Proband sampling frame | Multiple ascertainment | Likelihood Functions | Pedigree | Humans | Probability | Models, Genetic | Software | Genetic Testing - methods
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 04/2013, Volume 168, Issue 4, pp. 615 - 620
Objective: Sclerostin inhibits osteoblast differentiation and bone formation. If aberrant sclerostin action is involved in less efficient bone acquisition in... 
PHYSICAL-ACTIVITY | POSTMENOPAUSAL WOMEN | MASS | ENDOCRINOLOGY & METABOLISM | AGE | Osteoporosis - blood | Humans | Middle Aged | Osteoporosis - diagnosis | Male | Biomarkers - blood | Genetic Markers | Young Adult | Bone Morphogenetic Proteins - metabolism | Adolescent | Aged, 80 and over | Absorptiometry, Photon - methods | Adult | Aged | Child
Journal Article
Molecular psychiatry, ISSN 1359-4184, 2018, Volume 23, Issue 5, pp. 1181 - 1188
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 02/2020, Volume 501, pp. 154 - 164
•Mutational screening of the FBN1 gene for the diagnosis of Marfan Syndrome (MFS).•Detection rate for FBN1 variants in the study group is 86.3% (107/124... 
MFS | NGS | Marfan syndrome | Gene variants | FBN1 | CRITERIA | DIAGNOSIS | PROTEIN | SEQUENCE VARIANTS | GENOMICS | DATABASE | FIBRILLIN-1 | MEDICAL LABORATORY TECHNOLOGY | PROBANDS | MANIFESTATIONS
Journal Article
Journal Article
International Journal of Cardiology, ISSN 0167-5273, 10/2019, Volume 293, pp. 186 - 191
The aim of this study is to identify the mutation spectrum of FBN1 in patients with Marfan syndrome (MFS) or Marfan-Like Phenotypes and to analyze the... 
Genotype | Phenotype | Aortic aneurysm/dissection | Mutation | Marfan syndrome | FBN1 | LOCATION | CARDIAC & CARDIOVASCULAR SYSTEMS | AORTIC-ANEURYSMS | LOEYS-DIETZ SYNDROME | IDENTIFICATION | FIBRILLIN-1 FBN1 | FEATURES | GENE | RECURRENT | PROBANDS | Cysteine | Genetic aspects | Codon | Analysis
Journal Article
PRESENCE: Teleoperators and Virtual Environments, ISSN 1054-7460, 06/2010, Volume 19, Issue 3, pp. 230 - 242
Abstract Few HMD-based virtual environment systems display a rendering of the user's own body. Subjectively, this often leads to a sense of disembodiment in... 
Articles
Journal Article
Experimental and Clinical Endocrinology & Diabetes, ISSN 0947-7349, 05/2019, Volume 127, Issue 5, pp. 289 - 294
Abstract Objective We evaluated percutaneous penetration of topical testosterone and subsequent transfer to subcutaneous tissue, blood and saliva. Methods This... 
Article | saliva | microdialysis | PHARMACOKINETICS | oral fluid | male probands | ENDOCRINOLOGY & METABOLISM | REPLACEMENT THERAPY | free and bound testosterone | SERUM | testosterone pharmacokinetics | HORMONE-BINDING GLOBULIN | GEL
Journal Article