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List of works by Katrina A Diaz

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

scientific article published on 8 July 2013

Clinical predictors of the medical interventions provided to patients with low back pain in the emergency department

scientific article published on 14 August 2017

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

article

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

scientific article

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

scientific article published on 19 September 2013

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

scientific article

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

scientific article

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

scientific article published on October 2013

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