Medizinische Genetik Mainz
Industry / private company
Location:
Mainz,
Germany (DE)
Pathogenic PHIP Variants are Variably Associated With CAKUT (2024)
de Fallois J, Sieckmann T, Schönauer R, Petzold F, Münch J, Pauly M, Vasileiou G, et al.
Journal article
Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy (2022)
Aypek H, Krisp C, Lu S, Liu S, Kylies D, Kretz O, Wu G, et al.
Journal article
Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO-TECT Alport trial (2020)
Boeckhaus J, Hoefele J, Riedhammer KM, Tönshoff B, Ehren R, Pape L, Latta K, et al.
Journal article