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Lancet, The, ISSN 0140-6736, 2012, Volume 380, Issue 9854, pp. 1674 - 1682
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2010, Volume 1, Issue 3, pp. 99 - 112
The etiology of non-syndromic hydrocephalus is poorly understood. Via positional cloning in a consanguineous family with autosomal recessive hydrocephalus we... 
Original Article | Brain malformation | Daple | Wnt signalling | Hydrocephalus | CCDC88C | Original
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2005, Volume 48, Issue 2, pp. 97 - 111
Journal Article
Science, ISSN 0036-8075, 2008, Volume 319, pp. 816 - 819
Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2006, Volume 79, Issue 6, p. 1105
A genomewide linkage scan is conducted on patients with anonychia, an autosomal recessive disorder, and the R-spondin 4 (RSPO4) gene is analyzed. The results... 
Nail diseases | Chromosome abnormalities | Exon (Molecular genetics) | Cellular signal transduction | Genetic aspects | Research
Journal Article
Cartilage, ISSN 1947-6035, 08/2009, Volume 1, Issue 1 Suppl, pp. 64 - 92S
Journal Article
Cytogenetic and Genome Research, ISSN 1424-8581, 1999, Volume 84, Issue 3-4, pp. 253 - 254
Journal Article
Cytogenetic and Genome Research, ISSN 1424-8581, 1999, Volume 84, Issue 3-4, pp. 255 - 256
Journal Article
Kidney International, ISSN 0085-2538, 1988, Volume 33, Issue 24, pp. S62 - S67
Journal Article
INFOSYSTEMS, ISSN 0364-5533, 1984, Volume 31, Issue 8, pp. 44 - 46
Journal Article
Journal of Pharmaceutical Sciences, ISSN 0022-3549, 01/2015, Volume 104, Issue 1, pp. 191 - 206
Transfer of knowledge along the different phases of drug development is a fundamental process in pharmaceutical research. In particular, cross-species... 
Simulations | Cross-species extrapolation | CYP enzymes | Virtual liver | Pharmacokinetic/pharmacodynamic models | First-in-man | physiologically based pharmacokinetic (PBPK) modeling | Systems pharmacology | Bioinformatics | Computational biology | First‐in‐man | Cross‐species extrapolation | Physiologically based pharmacokinetic (PBPK) modeling | ORGANIC ANION TRANSPORTER | CHEMISTRY, MEDICINAL | TRANSPLANT PATIENTS | CLINICAL PHARMACOKINETICS | CHEMISTRY, MULTIDISCIPLINARY | Pharmacokinetic | P-GLYCOPROTEIN | HEPATIC BIOTRANSFORMATION | CYCLOSPORINE-A | PRECLINICAL PHARMACOKINETICS | VITRO-IN-VIVO | TISSUE DISTRIBUTION | PHARMACOLOGY & PHARMACY | CENTRAL-NERVOUS-SYSTEM | pharmacodynamic models | Gene Expression Regulation, Enzymologic - drug effects | Drugs, Investigational - pharmacology | Liver - enzymology | Species Specificity | Humans | Drugs, Investigational - pharmacokinetics | Cytochrome P-450 Enzyme System - metabolism | Drugs, Investigational - metabolism | Gene Expression Profiling | Liver - drug effects | Drug Evaluation, Preclinical - methods | Specific Pathogen-Free Organisms | Liver - metabolism | Mice, Inbred C57BL | Cells, Cultured | Computational Biology | Pharmacology, Clinical - methods | Physiology, Comparative - methods | Organ Specificity | Gene Expression Regulation - drug effects | Animals | Models, Biological | Cytochrome P-450 Enzyme System - genetics | Liver - cytology | Germany | Physiological aspects | Pharmacists | Gene expression | Analysis | Cytochrome P-450 | Protein binding
Journal Article