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Ciliopathy
Results: 51

#	Item
1	Alström Syndrome A guide to greater understanding of this rare condition For consultants, GPs and other health professionals as well as parents seeking to know more about Alström Syndrome Add to Reading List Source URL: www.alstrom.org.uk Language: English - Date: 2014-02-19 07:33:38 Ciliopathy Organ failure Kidney diseases Rare diseases Genetic disorders Alstrm syndrome ALMS1 Carl-Henry Alstrm Kidney failure Chronic kidney disease Kidney Acute kidney injury
2	Newsletter September 2012 SYSCILIA Newsletter 7 – September 2012 Midterm Review Add to Reading List Source URL: syscilia.org Language: English - Date: 2012-10-15 08:29:34 Ciliopathy Medical genetics Mutation Aging Cilium Nephronophthisis Gene therapy Genetic disorder Nonsense mutation Biology Genetics Health
3	Coffin-Lowry Syndrome The Coffin–Lowry syndrome (CLS) (MIMis a syndromic form of X-linked mental retardation characterized in male patients by psychomotor retardation, growth retardation, and various skeletal Add to Reading List Source URL: www.ssbp.org.uk Language: English - Date: 2015-05-13 15:34:29 Genetic genealogy Medical genetics Mental retardation RPS6KA3 X-linked mental retardation Sensorineural hearing loss Rare diseases Ciliopathy Fryns Syndrome Health Syndromes Coffin–Lowry syndrome
4	May-Simera and Kelley Cilia 2012, 1:7 http://www.ciliajournal.com/contentREVIEW Open Access Add to Reading List Source URL: www.ciliajournal.com Language: English Axoneme Cilium Intraflagellar transport Basal body Wnt signaling pathway Microtubule organizing center Microtubule Ciliopathy Centriole Biology Cell biology Organelles
5	Publish your next research article in Cilia Editors-in-Chief: Philip Beales (UK) and Peter Jackson (USA) Add to Reading List Source URL: media.biomedcentral.com Language: English - Date: 2014-07-18 07:14:03 Organelles Cilium Ciliopathy
6	The human disease network Kwang-Il Goh†‡§, Michael E. Cusick†‡¶, David Valle储, Barton Childs储, Marc Vidal†‡¶, and Albert-La´szlo´ Baraba´si†‡** Center for Complex Network Research and Depar Add to Reading List Source URL: www.pnas.org Language: English* - Date: 2007-11-02 14:03:40 Human genome Gene Mutation Zellweger syndrome Quantitative trait locus Caretaker gene Ciliopathy Biology Genetics Philosophy of biology
7	Microsoft Word - WES_WGS_Report_Supp_Example_100814.docx Add to Reading List Source URL: personalizedmedicine.partners.org Language: English - Date: 2014-10-22 13:38:56 Genomics Ciliopathy Bioinformatics Human genome Full genome sequencing Compound heterozygosity Genetic screen Exome sequencing Gene Biology Genetics Molecular biology
8	An upper limit for macromolecular crowding effects Add to Reading List Source URL: www.ciliajournal.com Language: English Cilium Cell biology Axoneme Green fluorescent protein Bardet–Biedl syndrome Motility Epithelium Cell Cilia Biology Ciliopathy Organelles
9	Tsang and Dynlacht Cilia 2013, 2:9 http://www.ciliajournal.com/contentREVIEW Open Access Add to Reading List Source URL: www.ciliajournal.com Language: English Ciliopathy Syndromes Cytoskeleton Intraflagellar transport Cilium Centriole Axoneme Basal body Bardet–Biedl syndrome Biology Organelles Cell biology
10	Remodeling Cildb, a popular database for cilia and links for ciliopathies Add to Reading List Source URL: www.ciliajournal.com Language: English Proteins Molecular biology Omics Proteomics Ciliopathy Model organism Transcriptome Proteome Intraflagellar transport Biology Bioinformatics Genomics

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