Associated Papers
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T et al.
Npj Genomic Medicine, 2020
A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9.
Antwi P et al.
Cold Spring Harbor Molecular Case Studies, 2018
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.
Pineda-Alvarez DE et al.
Human Genetics, 2012
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