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Phenotypic observations in “hypotrichosis with juvenile macular dystrophy” (recessive CDH3 mutations)
Taylor & Francis Verlag | 2016| -
Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations
Taylor & Francis Verlag | 2015| -
A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy
Taylor & Francis Verlag | 2017| -
A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations
Taylor & Francis Verlag | 2015| -
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies
Taylor & Francis Verlag | 2016| -
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene
Oxford University Press | 2015| -
Biophysical Properties of a Human Disease-Causing Mutation in CaV1.3 L-Type Calcium Channels
Online Contents | 2011|Contributors: Bolz, Hanno J.
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