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Author/Creator Carvalho, Daniel R.

2. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015)

Authors:
Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 2(2015:Feb.)
Page Start:
296
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. Issue 3 (1st April 2016)

Authors:
Huemer, Martina; Carvalho, Daniel R.; Brum, Jaime M.; Ünal, Özlem; Coskun, Turgay; Weisfeld‐Adams, James D.; Schrager, Nina L.; Scholl‐Bürgi, Sabine; Schlune, Andrea; Donner, Markus G.; Hersberger, Martin; Gemperle, Claudio; Riesner, Brunhilde; Ulmer, Hanno; Häberle, Johannes; Karall, Daniela
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 3(2016)
Page Start:
331
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗