Ruth Schreiber

Research interests

Publications

• RAAS-deficient organoids indicate delayed angiogenesis as a possible cause for autosomal recessive renal tubular dysgenesis

  Nature Communications · 2023 · 10.1038/s41467-023-43795-x

• X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome

  European Journal of Human Genetics · 2023 · 10.1038/s41431-022-01278-5

• Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure

  Kidney International Reports · 2023 · 10.1016/j.ekir.2023.07.019

• Glomerular involvement in children with H syndrome

  Pediatric Nephrology · 2021 · 10.1007/s00467-020-04860-5

• Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children

  Pediatric Nephrology · 2019 · 10.1007/s00467-019-04256-0

• A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I

  Annals of Human Genetics · 2019 · 10.1111/ahg.12317

• SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

  Brain · 2017 · 10.1093/brain/awx013

• Inherited renal tubular dysgenesis may not be universally fatal

  Pediatric Nephrology · 2010 · 10.1007/s00467-010-1584-0

• Nerve Growth Factor-Tyrosine Kinase A Pathway Is Involved in Thermoregulation and Adaptation to Stress: Studies on Patients with Hereditary Sensory and Autonomic Neuropathy Type IV

  Pediatric Research · 2005 · 10.1203/01.pdr.0000155941.37155.41

• Meconium stained amniotic fluid in preterm delivery is an independent risk factor for perinatal complications

  European Journal of Obstetrics & Gynecology and Reproductive Biology · 1998 · 10.1016/s0301-2115(98)00141-9

Current projects

No projects listed.