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Journal Article
Human Genetics, ISSN 0340-6717, 04/2017, Volume 136, Issue 4, pp. 463 - 479
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 05/2016, Volume 61, Issue 5, pp. 447 - 450
Bardet-Biedl syndrome (BBS; MIM 209900) is a recessive heterogeneous ciliopathy characterized by retinitis pigmentosa (RP), postaxial polydactyly, obesity,... 
COMPONENT | GENETICS & HEREDITY | Computational Biology - methods | Humans | Child, Preschool | Male | Exome | Skeleton - pathology | Carrier Proteins - genetics | Homozygote | Phenotype | Pedigree | Bardet-Biedl Syndrome - diagnosis | Bardet-Biedl Syndrome - genetics | High-Throughput Nucleotide Sequencing | Mutation | Skeleton - diagnostic imaging | Child
Journal Article
Acta Dermato-Venereologica, ISSN 0001-5555, 02/2018, Volume 98, Issue 2, pp. 287 - 288
Journal Article
Nature Communications, ISSN 2041-1723, 11/2016, Volume 7, Issue 1, p. 13586
Ciliopathies are a group of diseases that affect kidney and retina among other organs. Here, we identify a missense mutation in PIK3R4 (phosphoinositide... 
COMPLEX | GENE | PATHWAY | CLONING | MULTIDISCIPLINARY SCIENCES | DISEASE | CILIOGENESIS | AUTOPHAGY | CILIA | SACCHAROMYCES-CEREVISIAE | CYSTIC KIDNEY | Life Sciences | Biotechnology | Subcellular Processes | Cellular Biology
Journal Article
Human Mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1826 - 1840
Mutations in genes encoding aminoacyl‐tRNA synthetases have been reported in several neurological disorders. KARS is a dual localized lysyl‐tRNA synthetase and... 
lysyl‐tRNA synthetase | mitochondrial respiratory chain defect | optic neuropathy | translation | aaRS | deafness | neurological disorder | Neurological diseases | Deafness | Aminoacylation | Mitochondria | tRNA | Optic neuropathy | Lysine | Neuropathy | Mutation | Electron transport
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 12/2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article
Brain, ISSN 0006-8950, 11/2018, Volume 141, Issue 11, pp. 3160 - 3178
Journal Article
Brain, ISSN 0006-8950, 11/2018, Volume 141, Issue 11, pp. 3160 - 3178
Journal Article
Journal Article