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Author/Creator Pearson, Toni

1. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Issue 1 (December 2017)

Authors:
Wassenberg, Tessa; Molero-Luis, Marta; Jeltsch, Kathrin; Hoffmann, Georg; Assmann, Birgit; Blau, Nenad; Garcia-Cazorla, Angeles; Artuch, Rafael; Pons, Roser; Pearson, Toni; Leuzzi, Vincenco; Mastrangelo, Mario; Pearl, Phillip; Lee, Wang; Kurian, Manju; Heales, Simon; Flint, Lisa; Verbeek, Marcel;...
Journal:
Orphanet journal of rare diseases
Issue:
Volume 12:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Issue 8 (9th May 2016)

Authors:
Srour, Myriam; Caron, Véronique; Pearson, Toni; Nielsen, Sarah B.; Lévesque, Sébastien; Delrue, Marie‐Ange; Becker, Troy A.; Hamdan, Fadi F.; Kibar, Zoha; Sattler, Shannon G.; Schneider, Michael C.; Bitoun, Pierre; Chassaing, Nicolas; Rosenfeld, Jill A.; Xia, Fan; Desai, Sonal; Roeder, Elizabeth;...
Journal:
Human mutation
Issue:
Volume 37:Issue 8(2016)
Page Start:
786
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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