Associated Papers
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A et al.
Bmc Medical Genomics, 2020
33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1
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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