Last Updated: 09/26/2026
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Found 11 publications
Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome.
Journal: Pediatric nephrology (Berlin, Germany)
Published: April 02, 2025
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Journal: Kidney international reports
Published: February 17, 2025
Correction to: Phenotypic quantification of Nphs1‑deficient mice.
Journal: Journal of nephrology
Published: August 08, 2024
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 08, 2024
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.
Journal: American journal of physiology. Renal physiology
Published: March 14, 2024
Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.
Journal: Scientific reports
Published: January 19, 2024
Phenotypic quantification of Nphs1-deficient mice.
Journal: Journal of nephrology
Published: January 10, 2024
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Journal: Genes & diseases
Published: September 04, 2023
Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions.
Journal: Genes & diseases
Published: March 14, 2023
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Journal: American journal of medical genetics. Part A
Published: October 27, 2021
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 08, 2021
Showing 1-11 of 11
Last Updated: 09/26/2026