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Publication lists
Prof. Dr. Jörn Oliver Sass
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H-BRS Bibliography
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(5)
Departments, institutes and facilities
Institut für funktionale Gen-Analytik (IFGA)
(5)
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Article
(5)
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2011 (5)
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English
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Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)
(2011)
Vissers, Lisenka E. L. M.
;
Fano, Virginia
;
Martinelli, Diego
;
Campos-Xavier, Belinda
;
Barbuti, Domenico
;
Cho, Tae-Joon
;
Dursun, Ahmet
;
Kim, Ok Hwa
;
Lee, Sun Hee
;
Timpani, Giuseppina
;
Nishimura, Gen
;
Unger, Sheila
;
Sass, Jörn Oliver
;
Veltman, Joris A.
;
Brunner, Han G.
;
Bonafé, Luisa
;
Dionisi-Vici, Carlo
;
Superti-Furga, Andrea
The molecular basis of aminoacylase 1 deficiency
(2011)
Sommer, Anke
;
Christensen, Ernst
;
Schwenger, Susanne
;
Seul, Ralf
;
Haas, Dorothea
;
Olbrich, Heike
;
Omran, Heymut
;
Sass, Jörn Oliver
Selective screening for inborn errors of metabolism--assessment of metabolites in body fluids
(2011)
Sass, Jörn Oliver
Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease
(2011)
Grünert, Sarah Catharina
;
Fowler, Brian
;
Superti-Furga, Andrea
;
Sass, Jörn Oliver
;
Schwab, Karl Otfried
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
(2011)
Fukao, Toshiyuki
;
Sass, Jörn Oliver
;
Kursula, Petri
;
Thimm, Eva
;
Wendel, Udo
;
Ficicioglu, Can
;
Monastiri, Kamel
;
Guffon, Nathalie
;
Barić, Ivo
;
Zabot, Marie-Therese
;
Kondo, Naomi
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