S. Jakubiczka

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) (2005)

Wieland, I., Reardon, W., Jakubiczka, S., Franco, B., Kress, W., Vincent-Delorme, C., ...

Twenty-six novel EFNB1 mutations in familial and sporadic cranlofrontonasal syndrome (CFNS) (2005)

Wieland, I., Reardon, W., Jakubiczka, S., Franco, B., Kress, W., Vincent-Delorme, C., ...

Craniofrontonasal syndrome (CFNS) is an X-linked disorder characterized by a more severe manifestation in heterozygous females than in hemizygous males. Heterozygous females have craniofrontonasal...

Twenty-six novel EFNB1 mutations in familial and sporadic cranlofrontonasal syndrome (CFNS) (2005)

Wieland, I., Reardon, W., Jakubiczka, S., Franco, B., Kress, W., Vincent-Delorme, C., ...

Craniofrontonasal syndrome (CFNS) is an X-linked disorder characterized by a more severe manifestation in heterozygous females than in hemizygous males. Heterozygous females have craniofrontonasal...

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) (2005)

Wieland, I., Reardon, W., Jakubiczka, S., Franco, B., Kress, W., Vincent-Delorme, C., ...

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe (2000)

Dork, T, Macek, M, Mekus, F, Tummler, B, Tzountzouris, J, Casals, T, ...

We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation,...

Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia

Wieland, I, Muschke, P, Jakubiczka, S, Volleth, M, Freigang, B, Wieacker, P