Associated Papers
Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant.
Lemée MV et al.
Nucleic Acids Research, 2025
The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.
Kazan HH et al.
Cureus, 2025
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.
Hauer NN et al.
European Journal of Human Genetics : Ejhg, 2019
30809043 (PubMed )
Supplement: 41431_2019_362_MOESM2_ESM.xlsx › Combined_Scoring
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