Last Updated: 09/26/2026
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Found 10 publications
SMARCAL1 is a new osteosarcoma predisposition gene.
Journal: Journal of the National Cancer Institute
Published: July 08, 2025
Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.
Journal: EJHaem
Published: September 09, 2024
Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.
Journal: Frontiers in oncology
Published: May 31, 2024
Genetically inferred birthweight, height, and puberty timing and risk of osteosarcoma.
Journal: Cancer epidemiology
Published: May 04, 2023
Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19.
Journal: Frontiers in genetics
Published: April 06, 2022
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Journal: Pediatric research
Published: May 05, 2021
Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data.
Journal: Molecular genetics & genomic medicine
Published: June 25, 2018
Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.
Journal: Nature reviews. Endocrinology
Published: March 25, 2017
Reduction of Factor VIII Inhibitor Titers During Immune Tolerance Induction With Recombinant Factor VIII-Fc Fusion Protein.
Journal: Pediatric blood & cancer
Published: April 22, 2015
Showing 1-10 of 10
Last Updated: 09/26/2026