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01/2014
Background: Insulin resistance syndromes are a heterogeneous group of disorders with variable clinical phenotypes, associated with increased blood glucose and... 
Hyperglycemia | Gene | Genetic Polymorphism | Insulin Resistance Syndrome | Mutation
Web Resource
Lancet, The, ISSN 0140-6736, 2012, Volume 380, Issue 9854, pp. 1674 - 1682
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 12225 - 6
Short stature is a common pediatric disorder affecting 3% of the population. However, the clinical variability and genetic heterogeneity prevents the... 
VARIANTS | FORM | MULTIDISCIPLINARY SCIENCES | GROWTH | GUIDELINES | SPONDYLOEPIPHYSEAL DYSPLASIA | AGGRECAN GENE | IDENTIFICATION | CHILDREN | Cartilage | Aggrecan | Mutation | Genetic screening
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
Science, ISSN 0036-8075, 2/2008, Volume 319, Issue 5864, pp. 816 - 819
Journal Article
Journal Article
Prenatal diagnosis, ISSN 0197-3851, 09/2019
17q12 microdeletions containing HNF1B and intragenic variants within this gene are associated with variable developmental, endocrine and renal anomalies, often... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2018, Volume 102, Issue 3, pp. 468 - 479
Journal Article