C. Aulehla‐Scholz

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

Thilo Dörk, Bernd Dworniczak, C. Aulehla‐Scholz et al. · Human Genetics · 1997 · 256 citations

Developmental Anomaly, Distinct Spectrum, Developmental Biology +11

Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

Susanna Bunge, Heike Wedemann, D. David et al. · Genomics · 1993 · 121 citations · Full text

Genetics, Molecular Analysis, Molecular Biology +4

Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe

Bernd Dworniczak, C. Aulehla‐Scholz, Luba Kalaydjieva et al. · Genomics · 1991 · 73 citations

Aberrant Splicing, Genetics, Molecular Biology +4

Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria

Bernd Dworniczak, Klaus Grudda, Judith Stümper et al. · Genomics · 1991 · 44 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

Phenylketonuria: distribution of DNA diagnostic patterns in German families

C. Aulehla‐Scholz, Matthias Vorgerd, E. Sautter et al. · Human Genetics · 1988 · 43 citations

Mendelian Disorder, Genetic Disorder, Medicine +9