Mutation Spectrum of Meckel Syndrome Genes: One Group of Syndromes or Several Distinct Groups?

par Tallila, Jonna, Salonen, Riitta, Kohlschmidt, Nicolai, Peltonen, Leena, Kestilä, Marjo
Publié 2009

Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report

par Bogs, Thomas, Kipfmüller, Florian, Kohlschmidt, Nicolai, Gembruch, Ulrich, Müller, Andreas, Reutter, Heiko
Publié dans J Med Case Rep (2016)

Reduced mRNA and Protein Expression of the Genomic Caretaker RAD9A in Primary Fibroblasts of Individuals with Childhood and Independent Second Cancer

par Weis, Eva, Schoen, Holger, Victor, Anja, Spix, Claudia, Ludwig, Marco, Schneider-Raetzke, Brigitte, Kohlschmidt, Nicolai, Bartsch, Oliver, Gerhold-Ay, Aslihan, Boehm, Nils, Grus, Franz, Haaf, Thomas, Galetzka, Danuta
Publié 2011

Monozygotic twins discordant for constitutive BRCA1 promoter methylation, childhood cancer and secondary cancer

par Galetzka, Danuta, Hansmann, Tamara, El Hajj, Nady, Weis, Eva, Irmscher, Benjamin, Ludwig, Marco, Schneider-Rätzke, Brigitte, Kohlschmidt, Nicolai, Beyer, Vera, Bartsch, Oliver, Zechner, Ulrich, Spix, Claudia, Haaf, Thomas
Publié 2012

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

par Cöktü, Sümeyye, Spix, Claudia, Kaiser, Melanie, Beygo, Jasmin, Kleinle, Stephanie, Bachmann, Nadine, Kohlschmidt, Nicolai, Prawitt, Dirk, Beckmann, Alf, Klaes, Ruediger, Nevinny-Stickel-Hinzpeter, Claudia, Döhnert, Steffi, Kraus, Cornelia, Kadgien, Gundula, Vater, Inga, Biskup, Saskia, Kutsche, Michael, Kohlhase, Jürgen, Eggermann, Thomas, Zenker, Martin, Kratz, Christian P.
Publié dans Br J Cancer (2020)

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

par Romano, Maria-Teresa, Tafazzoli, Aylar, Mattern, Maximilian, Sivalingam, Sugirthan, Wolf, Sabrina, Rupp, Alexander, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Ellwanger, Jürgen, Gambon, Reto, Baumer, Alessandra, Kohlschmidt, Nicolai, Metze, Dieter, Holdenrieder, Stefan, Paus, Ralf, Lütjohann, Dieter, Frank, Jorge, Geyer, Matthias, Bertolini, Marta, Kokordelis, Pavlos, Betz, Regina C.
Publié dans Am J Hum Genet (2018)

Clinical presentation and proteomic signature of patients with TANGO2 mutations

par Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L., Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra B. T., Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García‐Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A., Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez‐Mallebrera, Cecilia, Taylor, Robert W., Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C., Roos, Andreas, Horvath, Rita
Publié dans J Inherit Metab Dis (2019)