Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry

por SCHMIDT, H., UHRIG, S., LEDERER, G., MURKEN, J., SPEICHER, M., SCHUFFENHAUER, S.
Publicado 2000

De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings

por Schuffenhauer, S., Leifheit, H., Lichtner, P., Peters, H., Murken, J., Emmerich, P
Publicado 1999

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

por Golla, A, Lichmer, P, von Gernet, S, Winterpacht, A, Fairley, J, Murken, J, Schuffenhauer, S
Publicado 1997

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

por Meitinger, T, Heye, B, Petit, C, Levilliers, J, Golla, A, Moraine, C, Dalla Piccola, B, Sippell, W G, Murken, J, Ballabio, A
Publicado 1990

Multiplex-FISH for pre- and postnatal diagnostic applications.

por Uhrig, S, Schuffenhauer, S, Fauth, C, Wirtz, A, Daumer-Haas, C, Apacik, C, Cohen, M, Müller-Navia, J, Cremer, T, Murken, J, Speicher, M R
Publicado 1999