Associated Papers
Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights.
Ghalamkari S et al.
American Journal of Medical Genetics. Part A, 2025
Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome.
Andreotti V et al.
Genes, 2024
Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.
Huang Z et al.
Kidney International Reports, 2023
38025242 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2
PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?
de Luna N et al.
Neuromuscular Disorders : Nmd, 2014
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