Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 5 publications
Optimizing next-generation sequencing for genetic diagnosis in autosomal dominant polycystic kidney disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 23, 2025
A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 07, 2021
Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.
Journal: European journal of medical genetics
Published: September 24, 2016
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Journal: European journal of human genetics : EJHG
Published: April 28, 2015
Life without kinase: cyclin E promotes DNA replication licensing and beyond.
Journal: Molecular cell
Published: January 25, 2007
Showing 1-5 of 5
Last Updated: 09/26/2026