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A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. [electronic resource] by
- Khateb, Samer
- Kowalewski, Björn
- Bedoni, Nicola
- Damme, Markus
- Pollack, Netta
- Saada, Ann
- Obolensky, Alexey
- Ben-Yosef, Tamar
- Gross, Menachem
- Dierks, Thomas
- Banin, Eyal
- Rivolta, Carlo
- Sharon, Dror
Producer: 20190201
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
Availability: No items available.
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Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. [electronic resource] by
- Kowalewski, Björn
- Lamanna, William C
- Lawrence, Roger
- Damme, Markus
- Stroobants, Stijn
- Padva, Michael
- Kalus, Ina
- Frese, Marc-André
- Lübke, Torben
- Lüllmann-Rauch, Renate
- D'Hooge, Rudi
- Esko, Jeffrey D
- Dierks, Thomas
Producer: 20120918
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 109
Availability: No items available.
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