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Author/Creator Aylsworth, Arthur S

1. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. Issue 7 (11th July 2012)

Authors:
Solomon, Benjamin D; Bear, Kelly A; Wyllie, Adrian; Keaton, Amelia A; Dubourg, Christele; David, Veronique; Mercier, Sandra; Odent, Sylvie; Hehr, Ute; Paulussen, Aimee; Clegg, Nancy J; Delgado, Mauricio R; Bale, Sherri J; Lacbawan, Felicitas; Ardinger, Holly H; Aylsworth, Arthur S; Bhengu, Ntombe...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 7(2012)
Page Start:
473
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. (4th December 2015)

Authors:
Bronicki, Lucas; Redin, Claire; Drunat, Severine; Piton, Amélie; Lyons, Michael; Passemard, Sandrine; Baumann, Clarisse; Faivre, Laurence; Thevenon, Julien; Rivière, Jean-Baptiste; Isidor, Bertrand; Gan, Grace; Francannet, Christine; Gunel, Murat; Jones, Julie; Gleeson, Joseph; Willems, Marjolain...
Journal:
Journal of medical genetics
Issue:
Volume 52(2015)Supplement 1
Page Start:
A2
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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