Associated Papers
Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations.
Cakir M et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2023
Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.
Ercoskun P et al.
Molecular Syndromology, 2022
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.
Alzahrani FA et al.
Scientific Reports, 2020
32704157 (PubMed )
Supplement: 41598_2020_69033_MOESM4_ESM.xlsx › cds_nonsense_SNP
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s3.xlsx › supplementary_data_2
A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.
Perreault-Micale C et al.
Molecular Genetics & Genomic Medicine, 2015
A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.
Ben Salah G et al.
Molecular Biology Reports, 2014
Bloom syndrome in short children born small for gestational age: a challenging diagnosis.
Renes JS et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
German J et al.
Human Mutation, 2007
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