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Science, ISSN 0036-8075, 2/2008, Volume 319, Issue 5864, pp. 816 - 819
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1014 - 1027
Journal Article
pädiatrie: Kinder- und Jugendmedizin hautnah, ISSN 1867-2132, 06/2016, Volume 28, Issue 3, pp. 36 - 45
Journal Article
Journal Article
Human mutation, ISSN 1059-7794, 2010, Volume 31, Issue 11, pp. E1851 - E1860
Journal Article
Pediatrics, ISSN 0031-4005, 01/2017, Volume 139, Issue 1, p. e1
  Acute liver failure (ALF) is a life-threatening condition in the absence of preexisting liver disease in children. The main clinical presentation comprises... 
Enzymes | Pediatrics | Liver diseases | Mutation | Fever | Children & youth
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 1, p. e16674
Recent studies demonstrated expression and activity of the intracellular cortisone-cortisol shuttle 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1) in... 
RESPONSES | OBESITY | 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE-1 | ATROPHY | PATHWAY | MULTIDISCIPLINARY SCIENCES | PROTEIN BREAKDOWN | FOXO TRANSCRIPTION FACTORS | C2C12 MYOTUBES | ADIPOSE-TISSUE | Muscle, Skeletal - enzymology | SKP Cullin F-Box Protein Ligases - genetics | Humans | Cells, Cultured | Muscle Cells - metabolism | Ubiquitin-Protein Ligases - metabolism | RNA, Messenger - analysis | Muscle, Skeletal - metabolism | SKP Cullin F-Box Protein Ligases - metabolism | Muscle, Skeletal - cytology | Tripartite Motif Proteins | Muscle Proteins - genetics | Muscle Proteins - metabolism | Myoblasts - cytology | Glucocorticoids - pharmacology | 11-beta-Hydroxysteroid Dehydrogenase Type 1 - physiology | Ubiquitin-Protein Ligases - genetics | Muscle Fibers, Skeletal - enzymology | Tyrosine | Ubiquitin | RNA | Ligases | Proteolysis | Muscles | Cortisone | Steroids | Transcription factors | Dehydrogenases | Glucocorticoids | Hormones | Hydrocortisone | Experiments | Degradation | Proteins | Atrophy | Rodents | 11β-Hydroxysteroid dehydrogenase | Pretreatment | Myotubes | Nutrition | Metabolism | Gene expression | Insulin | Biological activity | Skeletal muscle | Myoblasts | Polymerase chain reaction | Thin layer chromatography | Musculoskeletal system | Thin-layer chromatography | Insulin resistance | Diabetes | Differentiation | Endocrinology
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2017, Volume 25, Issue 7, pp. 823 - 831
Journal Article
Human mutation, ISSN 1059-7794, 2014, Volume 35, Issue 5, pp. 521 - 531
Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental... 
aplasia of alae nasi | ohanson | cognitive impairment | UBR | exocrine pancreatic insufficiency | lizzard syndrome | UBR1 | Exocrine pancreatic insufficiency | Aplasia of alae nasi | Johanson-Blizzard syndrome | Cognitive impairment | PRENATAL ULTRASONOGRAPHIC DIAGNOSIS | COMPLEX | JOHANSON-BLIZZARD-SYNDROME | UBIQUITIN LIGASE | INVOLVEMENT | AUTOPSY FINDINGS | DIABETES-MELLITUS | MALFORMATIONS | SEQUENCE | GENETICS & HEREDITY | END RULE PATHWAY | Abnormalities, Multiple - pathology | Hypothyroidism - pathology | Nose - abnormalities | Growth Disorders - pathology | Humans | Databases, Genetic | Anus, Imperforate - pathology | Intellectual Disability - genetics | Pancreatic Diseases - pathology | Ectodermal Dysplasia - pathology | Dwarfism - pathology | Hypothyroidism - genetics | Abnormalities, Multiple - genetics | Nose - pathology | Intellectual Disability - pathology | Hearing Loss, Sensorineural - pathology | Hearing Loss, Sensorineural - genetics | Mutation - genetics | Pancreatic Diseases - genetics | Dwarfism - genetics | Phenotype | Anus, Imperforate - genetics | Ectodermal Dysplasia - genetics | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Ubiquitin | Genetic aspects | Thyroid hormones | Hypothyroidism | Ligases | Genotype & phenotype | Genetic disorders | Mutation | Medical and Health Sciences | Medicin och hälsovetenskap
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2000, Volume 24, Issue 3, pp. 283 - 286
Journal Article