Ciliopathy

Results: 51



#Item
11Human genome / Gene / Mutation / Zellweger syndrome / Quantitative trait locus / Caretaker gene / Ciliopathy / Biology / Genetics / Philosophy of biology

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

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Source URL: www.barabasilab.com

Language: English - Date: 2008-11-24 14:19:01
12Neurological disorders / Rare diseases / Syndromes / Meckel syndrome / Nephrology / Joubert syndrome / TMEM216 / MKS1 / Genetic testing / Health / Ciliopathy / Medicine

Clinical utility gene card for: Meckel syndrome

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Source URL: www.nature.com

Language: English - Date: 2011-06-16 02:14:34
13Acoustics / Primary ciliary dyskinesia / Utility frequency / Cilium / Mucociliary clearance / Frequency / Ependyma / Respiratory epithelium / Frame rate / Anatomy / Biology / Ciliopathy

An upper limit for macromolecular crowding effects

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Source URL: www.ciliajournal.com

Language: English
14Syndromes / Rare diseases / Laurence–Moon syndrome / Polydactyly / Retinitis pigmentosa / BBS4 / Arthur Biedl / Health / Ciliopathy / Bardet–Biedl syndrome

BARDET-BIEDL SYNDROME What is Bardet-Biedl syndrome? Bardet-Biedl syndrome is a complex disorder that affects many parts of the body including the retina. Individuals with this syndrome have a retinal

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Source URL: www.blindness.org

Language: English - Date: 2014-09-24 14:13:34
15Birt / BHD / Ciliopathy / Basic helix-loop-helix / Health / Birt–Hogg–Dubé syndrome / Folliculin

Birt-Hogg-Dubé Newsletter June 2013 Vol.12, No.2 You are receiving this email because you have expressed an interest in BHD. We hope you will enjoy this and

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Source URL: www.bhdsyndrome.org

Language: English - Date: 2013-09-13 09:47:37
16Nephrology / Organ transplants / Ciliopathy / Membrane technology / Phenylketonuria / Polycystic kidney disease / Kidney transplantation / Renal failure / Dialysis / Medicine / Health / Kidney diseases

21st Century Cures – Patients

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Source URL: energycommerce.house.gov

Language: English - Date: 2014-08-21 14:29:59
17Rare diseases / Nephrology / Membrane technology / Ciliopathy / Autosomal dominant polycystic kidney / Polycystic kidney disease / Kidney transplantation / Renal failure / Kidney / Medicine / Kidney diseases / Health

As the mother of a child suffering from PKD, a disease for which there is no cure, I urge you to seek a path to a treatment. At present, she has kidney failure , dialysis and kidney transplant as her only hope for surviv

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Source URL: energycommerce.house.gov

Language: English - Date: 2014-08-21 14:29:47
18Biology / Rare diseases / Ciliopathy / Ion channels / Proteins / Autosomal dominant polycystic kidney / Autosomal recessive polycystic kidney / Polycystic kidney disease / Hsp90 inhibitors / Kidney diseases / Medicine / Health

Novel Small Molecule Lonidamine derivatives that inhibit Hsp90 and, therefore, its protein clients including CFTR, B-Raf/ERK, ErbB2, and Cdk4 Summary: Lonidimine derivates can be used to inhibit Hsp90 and, therefore, tre

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Source URL: kuic.ku.edu

Language: English - Date: 2014-02-21 14:56:52
19Molecular biology / Ciliopathy / Genomics / DNA / Bardet–Biedl syndrome / Human genome / Exome sequencing / Genetic disorder / Medical genetics / Biology / Genetics / Medicine

ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics Open

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Source URL: www.nature.com

Language: English - Date: 2013-05-06 10:59:49
20Ciliopathy / Organelles / Retinal Degeneration / Retinitis pigmentosa / Syndromes / Joubert syndrome / Axoneme / Bardet–Biedl syndrome / Electroretinography / Health / Biology / Ophthalmology

c Indian Academy of Sciences  REVIEW ARTICLE RPGR-containing protein complexes in syndromic and non-syndromic

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Source URL: www.ias.ac.in

Language: English - Date: 2009-12-31 06:26:34
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