Associated Papers
Variability of Chalcone Synthase in Chamomile Accessions (Matricaria chamomilla).
Novak M et al.
Planta Medica, 2024
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
Morimoto M et al.
Journal of Medical Genetics, 2024
The lysosomal trafficking regulator "LYST": an 80-year traffic jam.
Turner ME et al.
Frontiers in Immunology, 2024
38774881 (PubMed )
Supplement: DataSheet_1.pdf
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.
Al-Tamemi S et al.
Journal of Clinical Immunology, 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.
Song Y et al.
Bmc Medical Genetics, 2020
31906877 (PubMed )
Supplement: 12881_2019_922_MOESM5_ESM.xlsx › Sheet2
Chédiak-Higashi syndrome with novel gene mutation.
Helmi MM et al.
Bmj Case Reports, 2017
Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.
Jin Y et al.
Scientific Reports, 2017
A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.
Singh A et al.
International Journal of Dermatology, 2016
Towards the targeted management of Chediak-Higashi syndrome.
Lozano ML et al.
Orphanet Journal of Rare Diseases, 2014
Chediak-Higashi syndrome: novel mutation of the CHS1/LYST gene in 3 Omani patients.
Al-Tamemi S et al.
Journal of Pediatric Hematology/oncology, 2014
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