A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

द्वारा Fazeli, Walid, Kaczmarek, Sigrid, Kirschstein, Martin, Santer, René
में प्रकाशित BMC Gastroenterol (2015)

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

द्वारा Cobos, Paulina Nieves, Steglich, Cordula, Santer, René, Lukacs, Zoltan, Gal, Andreas
में प्रकाशित JIMD Rep (2014)

Leitsymptomvorlesungen im klinischen Studienabschnitt - Effekte evaluationsbasierter Interventionen auf eine Großgruppen-Lehrveranstaltung [Lectures based on cardinal symptoms in u...

द्वारा Kuhnigk, Olaf, Weidtmann, Katja, Anders, Sven, Hüneke, Bernd, Santer, René, Harendza, Sigrid
प्रकाशित 2011-02-01

Lectures based on cardinal symptoms in undergraduate medicine - effects of evaluation-based interventions on teaching large groups

द्वारा Kuhnigk, Olaf, Weidtmann, Katja, Anders, Sven, Hüneke, Bernd, Santer, René, Harendza, Sigrid
प्रकाशित 2011

Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control

द्वारा Klünder, Sarah, Heeren, Jörg, Markmann, Sandra, Santer, René, Braulke, Thomas, Pohl, Sandra
में प्रकाशित J Lipid Res (2015)

Stoffwechselerkrankungen

द्वारा Rodeck, Burkhard, Santer, René, Muschol, Nicole, Burdelski, Martin, Melter, Michael, Ganschow, Rainer, Baumann, Ulrich
में प्रकाशित Pädiatrische Gastroenterologie, Hepatologie und Ernährung (2013)

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

द्वारा Marten, Lara M., Brinkert, Florian, Smith, Desirée E.C., Prokisch, Holger, Hempel, Maja, Santer, René
में प्रकाशित Mol Genet Metab Rep (2020)

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

द्वारा Santer, René, du Moulin, Marcel, Shahinyan, Tatevik, Vater, Inga, Maier, Esther, Muntau, Ania C., Steinmann, Beat
में प्रकाशित Orphanet J Rare Dis (2016)

Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms

द्वारा du Moulin, Marcel, Thies, Bastian, Blohm, Martin, Oh, Jun, Kemper, Markus J., Santer, René, Mühlhausen, Chris
में प्रकाशित JIMD Rep (2017)

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

द्वारा Harms, Frederike L., Kloth, Katja, Bley, Annette, Denecke, Jonas, Santer, René, Lessel, Davor, Hempel, Maja, Kutsche, Kerstin
में प्रकाशित Am J Hum Genet (2018)

Hip Morphology in Mucolipidosis Type II

द्वारा Ammer, Luise Sophie, Oussoren, Esmeralda, Muschol, Nicole Maria, Pohl, Sandra, Rubio-Gozalbo, Maria Estela, Santer, René, Stuecker, Ralf, Vettorazzi, Eik, Breyer, Sandra Rafaela
में प्रकाशित J Clin Med (2020)

MAP17 Is a Necessary Activator of Renal Na(+)/Glucose Cotransporter SGLT2

द्वारा Coady, Michael J., El Tarazi, Abdulah, Santer, René, Bissonnette, Pierre, Sasseville, Louis J., Calado, Joaquim, Lussier, Yoann, Dumayne, Christopher, Bichet, Daniel G., Lapointe, Jean-Yves
में प्रकाशित J Am Soc Nephrol (2017)

Suggested guidelines for the diagnosis and management of urea cycle disorders

द्वारा Häberle, Johannes, Boddaert, Nathalie, Burlina, Alberto, Chakrapani, Anupam, Dixon, Marjorie, Huemer, Martina, Karall, Daniela, Martinelli, Diego, Crespo, Pablo Sanjurjo, Santer, René, Servais, Aude, Valayannopoulos, Vassili, Lindner, Martin, Rubio, Vicente, Dionisi-Vici, Carlo
प्रकाशित 2012

Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II

द्वारा Kollmann, Katrin, Pestka, Jan Malte, Kühn, Sonja Christin, Schöne, Elisabeth, Schweizer, Michaela, Karkmann, Kathrin, Otomo, Takanobu, Catala-Lehnen, Philip, Failla, Antonio Virgilio, Marshall, Robert Percy, Krause, Matthias, Santer, Rene, Amling, Michael, Braulke, Thomas, Schinke, Thorsten
प्रकाशित 2013

SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany

द्वारा Pfefferle, Susanne, Günther, Thomas, Kobbe, Robin, Czech-Sioli, Manja, Nörz, Dominic, Santer, René, Oh, Jun, Kluge, Stefan, Oestereich, Lisa, Peldschus, Kersten, Indenbirken, Daniela, Huang, Jiabin, Grundhoff, Adam, Aepfelbacher, Martin, Knobloch, Johannes K., Lütgehetmann, Marc, Fischer, Nicole
में प्रकाशित Clin Microbiol Infect (2021)

A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

द्वारा Ensenauer, Regina, Vockley, Jerry, Willard, Jan-Marie, Huey, Joseph C., Sass, Jörn Oliver, Edland, Steven D., Burton, Barbara K., Berry, Susan A., Santer, René, Grünert, Sarah, Koch, Hans-Georg, Marquardt, Iris, Rinaldo, Piero, Hahn, Sihoun, Matern, Dietrich
प्रकाशित 2004

Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

द्वारा A. Mahler, Elisa, Johannsen, Jessika, Tsiakas, Konstantinos, Kloth, Katja, Lüttgen, Sabine, Mühlhausen, Chris, Alhaddad, Bader, B. Haack, Tobias, M. Strom, Tim, Kortüm, Fanny, Meitinger, Thomas, C. Muntau, Ania, Santer, René, Kubisch, Christian, Lessel, Davor, Denecke*, Jonas, Hempel*, Maja
में प्रकाशित Dtsch Arztebl Int (2019)

Longitudinal Development of Antibody Responses in COVID-19 Patients of Different Severity with ELISA, Peptide, and Glycan Arrays: An Immunological Case Series

द्वारा Heidepriem, Jasmin, Dahlke, Christine, Kobbe, Robin, Santer, René, Koch, Till, Fathi, Anahita, Seco, Bruna M. S., Ly, My L., Schmiedel, Stefan, Schwinge, Dorothee, Serna, Sonia, Sellrie, Katrin, Reichardt, Niels-Christian, Seeberger, Peter H., Addo, Marylyn M., Loeffler, Felix F.
में प्रकाशित Pathogens (2021)

Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany

द्वारा Hahn, Andreas, Praetorius, Susanne, Karabul, Nesrin, Dießel, Johanna, Schmidt, Dorle, Motz, Reinald, Haase, Claudia, Baethmann, Martina, Hennermann, Julia B., Smitka, Martin, Santer, René, Muschol, Nicole, Meyer, Ann, Marquardt, Thorsten, Huemer, Martina, Thiels, Charlotte, Rohrbach, Marianne, Seyfullah, Gökce, Mengel, Eugen
में प्रकाशित JIMD Rep (2015)

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

द्वारा Grünert Sarah C, Stucki Martin, Morscher Raphael J, Suormala Terttu, Bürer Celine, Burda Patricie, Christensen Ernst, Ficicioglu Can, Herwig Jürgen, Kölker Stefan, Möslinger Dorothea, Pasquini Elisabetta, Santer René, Schwab K, Wilcken Bridget, Fowler Brian, Yue Wyatt W, Baumgartner Matthias R
प्रकाशित 2012-05-01