Associated Papers
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
Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders.
Skrypnyk C et al.
Frontiers in Genetics, 2024
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W et al.
Frontiers in Immunology, 2018
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Tesi B et al.
Genome Medicine, 2015
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