Associated Papers
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Anderson EN et al.
American Journal of Human Genetics, 2026
41468891 (PubMed )
Supplement: mmc1.pdf
Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
Mikhalchuk K et al.
Clinical Genetics, 2025
Advanced renal pelvis carcinoma patient with an ERBB2 insertion mutation: a case report.
Shang P et al.
The Journal of International Medical Research, 2023
37917812 (PubMed )
Supplement: sj-pdf-2-imr-10.1177_03000605231204502.pdf
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.
Moreira ES et al.
Journal of Medical Genetics, 2003
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