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

Tekijä Villavicencio-Lorini, Pablo, Klopocki, Eva, Trimborn, Marc, Koll, Randi, Mundlos, Stefan, Horn, Denise
Julkaistu 2013

Autophagic vacuolar myopathy is a common feature of CLN3 disease

Tekijä Radke, Josefine, Koll, Randi, Gill, Esther, Wiese, Lars, Schulz, Angela, Kohlschütter, Alfried, Schuelke, Markus, Hagel, Christian, Stenzel, Werner, Goebel, Hans H.
Julkaisussa Ann Clin Transl Neurol (2018)

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

Tekijä 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
Julkaisussa Acta Neuropathol Commun (2019)

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

Tekijä 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
Julkaistu 2010

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

Tekijä 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
Julkaistu 2014

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

Tekijä 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
Julkaisussa Neurol Neuroimmunol Neuroinflamm (2018)

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

Tekijä 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
Julkaistu 2011