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Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 5446 - 15
Primary cilia defects result in a group of related pleiotropic malformation syndromes known as ciliopathies, often characterised by cerebellar developmental... 
JOUBERT-SYNDROME | PROTEIN | NPHP1 GENE DELETION | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | EXPANSION | MICE | CILIOGENESIS | WNT | PRIMARY CILIUM | MECKEL-GRUBER-SYNDROME | Hypoplasia | Cerebellum | Pattern formation | Phenotypes | Transcription factors | Wnt protein | Frizzled protein | Gestation | Gene expression | Defects | Homeobox | β-catenin | Hedgehog protein | Purkinje cells | Hindbrain | Cilia | Apoptosis
Journal Article
Lancet, The, ISSN 0140-6736, 2017, Volume 389, pp. S14 - S14
Abstract Background Over the past 5 years, exome sequencing and whole-genome sequencing have been extensively used to identify genes underlying rare mendelian... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | Genetic research | Genetic aspects | Genomes | Genes | Genomics
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2015, Volume 96, Issue 6, pp. 948 - 954
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2018
Hearing loss is a debilitating disorder that impairs language acquisition, resulting in disability in children and potential isolation in adulthood. Its onset... 
LHFPL5 | Deafness | Homozygosity mapping | Exome sequencing
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 06/2017, Volume 58, Issue 7, pp. 2906 - 2914
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1826 - 1831
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 12/2015, Volume 56, Issue 13, pp. 8083 - 8090
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 20, pp. 4546 - 4555
Journal Article
Molecular Vision, ISSN 1090-0535, 03/2015, Volume 21, pp. 236 - 243
Purpose: To investigate the molecular basis of retinitis pigmentosa in two consanguineous families of Pakistani origin with multiple affected members. Methods:... 
CERKL | GENE | CONE-ROD DYSTROPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | FRAMEWORK | OPHTHALMOLOGY | RETINAL DYSTROPHIES | ABCR | REVEALS | RPGR | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 2014, Volume 9, Issue 8, pp. e104281 - e104281
Journal Article
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