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H-BRS Bibliography
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(8)
Departments, institutes and facilities
Institut für funktionale Gen-Analytik (IFGA)
(8)
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Article
(8)
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2010 (8)
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English
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Aminoacylase 1 deficiency associated with autistic behavior
(2010)
Tylki-Szymanska, Anna
;
Gradowska, Wanda
;
Sommer, Anke
;
Heer, Angelina
;
Walter, Melanie
;
Reinhard, Christina
;
Omran, Heymut
;
Sass, Jörn Oliver
;
Jurecka, Agnieszka
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia
(2010)
Scholl-Bürgi, Sabine
;
Sass, Jörn Oliver
;
Heinz-Erian, Peter
;
Amann, Edda
;
Haberlandt, Edda
;
Albrecht, Ursula
;
Ertl, Claudia
;
Baumgartner Sigl, Sara
;
Lagler, Florian
;
Rostasy, Kevin
;
Karall, Daniela
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival
(2010)
Rauschenberger, Katharina
;
Schöler, Katja
;
Sass, Jörn Oliver
;
Sauer, Sven
;
Djuric, Zdenka
;
Rumig, Cordula
;
Wolf, Nicole I.
;
Okun, Jürgen G.
;
Kölker, Stefan
;
Schwarz, Heinz
;
Fischer, Christine
;
Grziwa, Beate
;
Runz, Heiko
;
Nümann, Astrid
;
Shafqat, Naeem
;
Kavanagh, Kathryn L.
;
Hämmerling, Günter
;
Wanders, Ronald J. A.
;
Shield, Julian P. H.
;
Wendel, Udo
;
Stern, David
;
Nawroth, Peter
;
Hoffmann, Georg F.
;
Bartram, Claus R.
;
Arnold, Bernd
;
Bierhaus, Angelika
;
Oppermann, Udo
;
Steinbeisser, Herbert
;
Zschocke, Johannes
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
(2010)
van Kuilenburg, André B. P.
;
Dobritzsch, Doreen
;
Meijer, Judith
;
Meinsma, Rutger
;
Benoist, Jean-François
;
Assmann, Birgit
;
Schubert, Susanne
;
Hoffmann, Georg F.
;
Duran, Marinus
;
Vries, Maaike C. de
;
Kurlemann, Gerd
;
Eyskens, François J. M.
;
Greed, Lawrence
;
Sass, Jörn Oliver
;
Schwab, K. Otfried
;
Sewell, Adrian C.
;
Walter, John
;
Hahn, Andreas
;
Zoetekouw, Lida
;
Ribes, Antonia
;
Lind, Suzanne
;
Hennekam, Raoul C. M.
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia
(2010)
Sass, Jörn Oliver
;
Gunduz, Aysegul
;
Araujo Rodrigues Funayama, Carolina
;
Korkmaz, Baris
;
Dantas Pinto, Kylvia Giselle
;
Tuysuz, Beyhan
;
Yanasse Dos Santos, Letícia
;
Taskiran, Emine
;
Fátima Turcato, Marlene de
;
Lam, Ching-Wan
;
Reiss, Jochen
;
Walter, Melanie
;
Yalcinkaya, Cengiz
;
Camelo Junior, José Simon
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK)
(2010)
Sass, Jörn Oliver
;
Fischer, Kathleen
;
Wang, Raymond
;
Christensen, Ernst
;
Scholl-Bürgi, Sabine
;
Chang, Richard
;
Kapelari, Klaus
;
Walter, Melanie
Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria
(2010)
Popek, Manuela
;
Walter, Melanie
;
Fernando, Malkanthi
;
Lindner, Martin
;
Schwab, Karl Otfried
;
Sass, Jörn Oliver
D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndrome
(2010)
Grünert, Sarah
;
Schmidts, Miriam
;
Kenzel, Sybille
;
Sass, Jörn Oliver
;
Greiner, Peter
;
Pohl, Martin
;
Hentschel, Roland
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