Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

Por Villavicencio-Lorini, Pablo, Klopocki, Eva, Trimborn, Marc, Koll, Randi, Mundlos, Stefan, Horn, Denise
Publicado em 2013

Autophagic vacuolar myopathy is a common feature of CLN3 disease

Por Radke, Josefine, Koll, Randi, Gill, Esther, Wiese, Lars, Schulz, Angela, Kohlschütter, Alfried, Schuelke, Markus, Hagel, Christian, Stenzel, Werner, Goebel, Hans H.
Publicado no Ann Clin Transl Neurol (2018)

Predictive MGMT status in a homogeneous cohort of IDH wildtype glioblastoma patients

Por Radke, Josefine, Koch, Arend, Pritsch, Fabienne, Schumann, Elisa, Misch, Martin, Hempt, Claudia, Lenz, Klaus, Löbel, Franziska, Paschereit, Fabienne, Heppner, Frank L., Vajkoczy, Peter, Koll, Randi, Onken, Julia
Publicado no Acta Neuropathol Commun (2019)

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

Por Klopocki, Eva, Hennig, Bianca P., Dathe, Katarina, Koll, Randi, de Ravel, Thomy, Baten, Emiel, Blom, Eveline, Gillerot, Yves, Weigel, Johannes F.W., Krüger, Gabriele, Hiort, Olaf, Seemann, Petra, Mundlos, Stefan
Publicado em 2010

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

Por Graul-Neumann, Luitgard M, Deichsel, Alexandra, Wille, Ulrike, Kakar, Naseebullah, Koll, Randi, Bassir, Christian, Ahmad, Jamil, Cormier-Daire, Valerie, Mundlos, Stefan, Kubisch, Christian, Borck, Guntram, Klopocki, Eva, Mueller, Thomas D, Doelken, Sandra C, Seemann, Petra
Publicado em 2014

Architectural B-cell organization in skeletal muscle identifies subtypes of dermatomyositis

Por Radke, Josefine, Koll, Randi, Preuße, Corinna, Pehl, Debora, Todorova, Kremena, Schönemann, Constanze, Allenbach, Yves, Aronica, Eleonora, de Visser, Marianne, Heppner, Frank L., Weis, Joachim, Doostkam, Soroush, Maisonobe, Thierry, Benveniste, Olivier, Goebel, Hans-Hilmar, Stenzel, Werner
Publicado no Neurol Neuroimmunol Neuroinflamm (2018)

Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis

Por Klopocki, Eva, Lohan, Silke, Brancati, Francesco, Koll, Randi, Brehm, Anja, Seemann, Petra, Dathe, Katarina, Stricker, Sigmar, Hecht, Jochen, Bosse, Kristin, Betz, Regina C., Garaci, Francesco Giuseppe, Dallapiccola, Bruno, Jain, Mahim, Muenke, Maximilian, Ng, Vivian C.W., Chan, Wilson, Chan, Danny, Mundlos, Stefan
Publicado em 2011