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Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 81, Issue 1, pp. 170 - 179
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2006, Volume 103, Issue 16, pp. 6287 - 6292
Journal Article
Human Mutation, ISSN 1059-7794, 07/2015, Volume 36, Issue 7, pp. 660 - 668
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1 , is typically characterized by multisystem involvement including early... 
Alström Syndrome | SNV | ALMS1 | ciliopathy | Ciliopathy | PROTEIN | VARIANTS | BARDET-BIEDL | CARDIOMYOPATHY | PHENOTYPE | IDENTIFICATION | OBESITY | DISEASES | GENE | GENETICS & HEREDITY | EARLY-ONSET | Alstrom Syndrome | Proteins - genetics | Young Adult | Exons | Pedigree | Humans | Adolescent | Alstrom Syndrome - genetics | Adult | Mutation | Child | Type 2 diabetes | Genetic aspects | Obesity in children | Analysis | Blindness | Genetic disorders | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2011, Volume 108, Issue 25, pp. 10320 - 10325
Bardet—Biedl syndrome (BBS) is a pleiotropic, heterogeneous human disease whose etiology lies primarily in dysfunctional basal bodies and/or cilia. Both BBS... 
Axons | Phenotypes | Disease models | Bardet Biedl syndrome | Neurons | Antibodies | Photoreceptors | Mice | Dendrites | Cilia | Olfactory activity | Ciliopathy | Protein trafficking | protein trafficking | MULTIDISCIPLINARY SCIENCES | PLANAR CELL POLARITY | SYNDROME GENES | ciliopathy | CILIA DEFECTS | MOUSE MODEL | ODORANT RECEPTOR | RETINOPATHY | MICE | CILIOGENESIS | olfactory activity | PROJECTIONS | INTRAFLAGELLAR TRANSPORT | Microtubule-Associated Proteins - genetics | Membrane Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Axons - physiology | Olfactory Mucosa - physiology | Bardet-Biedl Syndrome - physiopathology | Nerve Tissue Proteins - genetics | Cilia - metabolism | Gene Knock-In Techniques | Mice, Knockout | Nerve Tissue Proteins - metabolism | Proteins - genetics | Smell - physiology | Animals | Proteins - metabolism | Sensory Receptor Cells - cytology | Sensory Receptor Cells - physiology | Olfaction Disorders - physiopathology | Membrane Proteins - metabolism | Olfactory Mucosa - cytology | Disease Models, Animal | Physiological aspects | Genetic aspects | Bardet-Biedl syndrome | Rhinencephalon | Proteins | Genetics | Mental disorders | Rodents | Animal models | Epithelium | Basal bodies | Odorants | Etiology | Olfaction | Sensory neurons | Olfactory bulb | Olfactory receptor neurons | Axon guidance | Index Medicus | Biological Sciences
Journal Article