Author/Creator: Nunez, Laura Dempsey - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Nunez, Laura Dempsey

1. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. Issue 9 (23rd July 2011)

Authors:: Alfares, Ahmed; Nunez, Laura Dempsey; Al-Thihli, Khalid; Mitchell, John; Melançon, Serge; Anastasio, Natascia; Ha, Kevin C H; Majewski, Jacek; Rosenblatt, David S; Braverman, Nancy
Journal:: Journal of medical genetics
Issue:: Volume 48:Issue 9(2011)
Page Start:: 602
Record Type:: Journal Article
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2. Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. Issue 9 (3rd August 2011)

Authors:: Watkins, David; Schwartzentruber, Jeremy A; Ganesh, Jaya; Orange, Jordan S; Kaplan, Bernard S; Nunez, Laura Dempsey; Majewski, Jacek; Rosenblatt, David S
Journal:: Journal of medical genetics
Issue:: Volume 48:Issue 9(2011)
Page Start:: 590
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗