A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report

por Altıncık, Ayça, Schlingmann, Karl Peter, Tosun, Mahya Sultan
Publicado 2016

Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome

por Schigt, Heidi, Bald, Martin, van der Eerden, Bram C J, Gal, Lars, Ilenwabor, Barnabas P, Konrad, Martin, Levine, Michael A, Li, Dong, Mache, Christoph J, Mackin, Sharon, Perry, Colin, Rios, Francisco J, Schlingmann, Karl Peter, Storey, Ben, Trapp, Christine M, Verkerk, Annemieke J M H, Zillikens, M Carola, Touyz, Rhian M, Hoorn, Ewout J, Hoenderop, Joost G J, de Baaij, Jeroen H F
Publicado 2023

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

por Franken, Gijs A. C., Müller, Dominik, Mignot, Cyril, Keren, Boris, Lévy, Jonathan, Tabet, Anne‐Claude, Germanaud, David, Tejada, María‐Isabel, Kroes, Hester Y., Nievelstein, Rutger A. J., Brimble, Elise, Ruzhnikov, Maria, Claverie‐Martin, Felix, Szczepańska, Maria, Ćuk, Martin, Latta, Femke, Konrad, Martin, Martínez‐Cruz, Luis A., Bindels, René J. M., Hoenderop, Joost G. J., Schlingmann, Karl‐Peter, de Baaij, Jeroen H. F.
Publicado 2021

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

por König, Jens Christian, Karsay, Rebeka, Gerß, Joachim, Schlingmann, Karl-Peter, Dahmer-Heath, Mareike, Telgmann, Anna-Katharina, Kollmann, Sabine, Ariceta, Gema, Gillion, Valentine, Bockenhauer, Detlef, Bertholet-Thomas, Aurélia, Mastrangelo, Antonio, Boyer, Olivia, Lilien, Marc, Decramer, Stéphane, Schanstra, Joost. P., Pohl, Martin, Schild, Raphael, Weber, Stefanie, Hoefele, Julia, Drube, Jens, Cetiner, Metin, Hansen, Matthias, Thumfart, Julia, Tönshoff, Burkhard, Habbig, Sandra, Liebau, Max Christoph, Bald, Martin, Bergmann, Carsten, Pennekamp, Petra, Konrad, Martin
Publicado 2022