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- Santer, René
- Lukacs, Zoltan 9
- Hempel, Maja 6
- Tsiakas, Konstantinos 6
- Schneppenheim, Reinhard 5
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95 Einträge gefunden
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Neonatal screening for isovaleric aciduria:Reducing the increasingly high false-positive rate in Germany
- Murko, Simona
- Aseman, Asra Dadkhah
- Reinhardt, Friederike
- Gramer, Gwendolyn
- Okun, Jürgen Günther
- Mütze, Ulrike
- Santer, René
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CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
- Ammer, Luise Sophie
- Täuber, Karolin
- Perez, Anna
- Dohrmann, Thorsten
- Denecke, Jonas
- Santer, René
- Blümlein, Ulrike
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Longitudinal development of antibody responses in covid-19 patients of different severity with elisa, peptide, and glycan arrays: An immunological case series
- Heidepriem, Jasmin
- Dahlke, Christine
- Kobbe, Robin
- Santer, René
- Koch, Till
- Fathi, Anahita
- Seco, Bruna M.S.
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The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein
- Grünert, Sarah C
- Eckenweiler, Matthias
- Haas, Dorothea
- Lindner, Martin
- Tsiakas, Konstantinos
- Santer, René
- Tucci, Sara
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Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
- Mütze, Ulrike
- Henze, Lucy
- Gleich, Florian
- Lindner, Martin
- Grünert, Sarah C
- Spiekerkoetter, Ute
- Santer, René
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Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study
- Märtner, E M Charlotte
- Maier, Esther M
- Mengler, Katharina
- Thimm, Eva
- Schiergens, Katharina A
- Marquardt, Thorsten
- Santer, René
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SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany
- Pfefferle, Susanne
- Günther, Thomas
- Kobbe, Robin
- Czech-Sioli, Manja
- Nörz, Dominic
- Santer, René
- Oh, Jun
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Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
2020 - Forschungsinformationssystem des UKE -
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome
- Pennisi, Alessandra
- Maranda, Bruno
- Benoist, Jean-François
- Baudouin, Véronique
- Rigal, Odile
- Pichard, Samia
- Santer, René
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Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
- Andersen, Peter M
- Nordström, Ulrika
- Tsiakas, Konstantinos
- Johannsen, Jessika
- Volk, Alexander E
- Bierhals, Tatjana
- Zetterström, Per
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A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
- Johannsen, Jessika
- Kortüm, Fanny
- Rosenberger, Georg
- Bokelmann, Kristin
- Schirmer, Markus A
- Denecke, Jonas
- Santer, René
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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
- Harms, Frederike L
- Kloth, Katja
- Bley, Annette
- Denecke, Jonas
- Santer, René
- Lessel, Davor
- Hempel, Maja
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Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a
- Holsten, Till
- Tsiakas, Konstantinos
- Kordes, Uwe
- Bison, Brigitte
- Pietsch, Torsten
- Rutkowski, Stefan
- Santer, René
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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
- Oud, Machteld M
- Tuijnenburg, Paul
- Hempel, Maja
- van Vlies, Naomi
- Ren, Zemin
- Ferdinandusse, Sacha
- Jansen, Machiel H
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The first case of domino-split-liver transplantation in maple syrup urine disease
2017 - Forschungsinformationssystem des UKE -
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells
- Böhringer, Judith
- Santer, René
- Schumacher, Neele
- Gieseke, Friederike
- Cornils, Kerstin
- Pechan, Maria
- Kustermann-Kuhn, Birgit