Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS28_het
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.
Chelleri C et al.
Human Mutation, 2023
40225171 (PubMed )
Supplement: 3160653.f1.zip › Table_S1.pdf
Nonsyndromic craniosynostosis: novel coding variants.
Sewda A et al.
Pediatric Research, 2019
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › d__Freq_TP093
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