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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
Download from www.researchgate.netTMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
Download from rupress.orgDCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
Download from www.ncbi.nlm.nih.govMutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy
Download from link.springer.comA Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
Download from europepmc.orgFourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis
Download from europepmc.orgMutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
Download from www.ncbi.nlm.nih.govRapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Download from www.ncbi.nlm.nih.govMutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype
UploadMutations in CSPP1 Lead to Classical Joubert Syndrome
Download from www.ncbi.nlm.nih.govTHOC5: a novel gene involved in HDL-cholesterol metabolism
Download from doi.orgDefects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans.
Download from discovery.ucl.ac.ukZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
Download from www.ncbi.nlm.nih.govANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
Download from www.nature.comMutation of the Mg2+ Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype
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