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3 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder 2024 . Tokatly Latzer, Itay \| Family Name Deactivated, Given Names Deactivated \| Afshar-Saber, Wardiya \| Lee, Henry \| BERTOLDI, Mariarita \| McGinty, Gabrielle E. \| DiBacco, Melissa \| Arning, Erland \| Tsuboyama, Melissa \| Rotenberg, Alexander \| Opladen, Thomas \| Jeltsch, Kathrin \| García-Cazorla, Àngels \| Juliá-Palacios, Natalia \| Gibson, K. Michael \| SAHIN, MUSTAFA \| Pearl, Phillip	2024		http://purl.org/ontology/bibo/Article
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome 2021 . Meyer, Robert \| Begemann, Matthias \| Hübner, Christian Thomas \| Dey, Daniela \| Kuechler, Alma \| Elgizouli, Magdeldin \| Schara, Ulrike \| Ambrozaityte, Laima \| Burnyte, Birute \| Schröder, Carmen \| Kenawy, Asmaa \| Kroisel, Peter \| Demuth, Stephanie \| Fekete, Gyorgy \| Opladen, Thomas \| Elbracht, Miriam \| Eggermann, Thomas	2021		http://purl.org/ontology/bibo/Article
Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec 2021 . Opladen, Thomas \| Brennenstuhl, Heiko \| Kuseyri Hübschmann, Oya \| Call, Debora \| Green, Kim \| Schara, Ulrike \| Rascher, Wolfgang \| Hövel, Annegret \| Assmann, Birgit \| Kölker, Stefan \| Westhoff, Jens H. \| Walter, Magdalena \| Ziegler, Andreas \| Hoffmann, Georg F. \| Kiening, Karl	2021		http://purl.org/ontology/bibo/Article