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Author/Creator Lehman, April

2. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Issue 1 (22nd October 2022)

Authors:
Maia, Nuno; Ibarluzea, Nekane; Misra‐Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L. M.; Keski‐Filppula, Riikka; Guitart, Miriam; Gabau Vila, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa‐Aranz...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 1(2023)
Page Start:
135
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects. Issue 1 (16th August 2020)

Authors:
Bedoyan, Jirair K.; Hage, Rosemary; Shin, Ha Kyung; Linard, Sharon; Ferren, Edwin; Ducich, Nicole; Wilson, Kirkland; Lehman, April; Schillaci, Lori‐Anne; Manickam, Kandamurugu; Mori, Mari; Bartholomew, Dennis; DeBrosse, Suzanne; Cohen, Bruce; Parikh, Sumit; Kerr, Douglas
Journal:
JIMD reports
Issue:
Volume 56:Issue 1(2020)
Page Start:
70
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗