Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency
Golla, A, Deufel, A, Aulehla-Scholz, C, Böhm, I, Hilz, B, Meitinger, T, Deufel, T
Published in Human mutation (1994)
Published in Human mutation (1994)
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Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?
Dworniczak, B, Kalaydjieva, L, Pankoke, S, Aulehla-Scholz, C, Allen, G, Horst, J
Published in Human mutation (1992)
Published in Human mutation (1992)
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Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
DÖRK, T, DWORNICZAK, B, PANDER, H.-J, SPERLING, H, RATJEN, F, PASSARGE, E, SCHMIDTKE, J, STUHRMANN, M, AULEHLA-SCHOLZ, C, WIECZOREK, D, BÖHM, I, MAYEROVA, A, SEYDEWITZ, H. H, NIESCHLAG, E, MESCHEDE, D, HORST, J
Published in Human genetics (01.09.1997)
Published in Human genetics (01.09.1997)
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BH4-sensitive hyperphenylalaninemia
Lücke, Thomas, Illsinger, Sabine, Aulehla-Scholz, Christa, Sander, Johannes, Das, Anibh M.
Published in Pediatric neurology (01.03.2003)
Published in Pediatric neurology (01.03.2003)
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BH4-Sensitive hyperphenylalaninemia: New case and review of literature
LÜCKE, Thomas, ILLSINGER, Sabine, AULEHLA-SCHOLZ, Christa, SANDER, Johannes, DAS, Anibh M
Published in Pediatric neurology (01.03.2003)
Published in Pediatric neurology (01.03.2003)
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Problems in detecting mosaic DNA methylation in Angelman syndrome
HORSTHEMKE, Bernhard, LICH, Christina, JANSSEN, Bart, KLEINLE, Stephanie, KOCHHAN, Lothar, KRASEMANN, Ernst, KRAUS, Cornelia, KROISEL, Peter, PLENDL, Hansjörg, PURMANN, Sabine, SANDER, Gabriele, SKLADNY, Heyko, BUITING, Karin, SPITZER, Eva, THAMM-MÜCKE, Barbara, VARON-MATEEVA, Raymonda, WEINHÄUSEL, Andreas, WEIRICH, Helga, ACHMANN, Roland, AULEHLA-SCHOLZ, Christa, BAUMER, Alessandra, BÜRGER, Joachim, DWORNICZAK, Bernd, GLÄSER, Dieter, HOLINSKI-FEDER, Elke
Published in European journal of human genetics : EJHG (01.12.2003)
Published in European journal of human genetics : EJHG (01.12.2003)
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In frame deletion (delta F311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene
Meitinger, T, Golla, A, Dörner, C, Deufel, A, Aulehla-Scholz, C, Böhm, I, Reinhardt, D, Deufel, T
Published in Human molecular genetics (01.12.1993)
Published in Human molecular genetics (01.12.1993)
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Molecular analysis of PKU haplotypes in the population of southern Poland
Zygulska, M, Eigel, A, Aulehla-Scholz, C, Pietrzyk, J J, Horst, J
Published in Human genetics (01.01.1991)
Published in Human genetics (01.01.1991)
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