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

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

Autophagic vacuolar myopathy is a common feature of CLN3 disease

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

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

nork 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
Argitaratua izan da Acta Neuropathol Commun (2019)

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

nork 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
Argitaratua 2010

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

nork 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
Argitaratua 2014

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

nork 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
Argitaratua izan da Neurol Neuroimmunol Neuroinflamm (2018)

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

nork 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
Argitaratua 2011