Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 18 publications
Diazoxide-Associated Hyperglycemia: A Critical Case Precipitating Hyperosmolar Hyperglycemic State in a Child.
Journal: Journal of medical toxicology : official journal of the American College of Medical Toxicology
Published: August 15, 2024
Electrically-evoked oscillating calcium transients in mono- and co-cultures of iPSC glia and sensory neurons.
Journal: Frontiers in cellular neuroscience
Published: November 09, 2022
The RNA-Binding Protein HuR Is Integral to the Function of Nociceptors in Mice and Humans.
Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: August 26, 2022
A Novel 3D Helical Microelectrode Array for In Vitro Extracellular Action Potential Recording.
Journal: Micromachines
Published: August 20, 2022
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 08, 2022
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Journal: The Journal of clinical investigation
Published: November 16, 2017
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Published: September 12, 2017
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.
Journal: Hypertension (Dallas, Tex. : 1979)
Published: September 07, 2017
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Journal: Nature communications
Published: May 19, 2017
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: April 13, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Journal: Nature genetics
Published: November 12, 2016
Last Updated: 09/26/2026