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JIMD Reports|October 3, 2013
Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R MutationT P Slavin, S J Zaidi, C Neal, et al.
Case Reports in Genetics|July 19, 2013
Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital CataractsD Wong, S M Johnson, D Young, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|March 31, 2012
Monozygotic twins discordant for trisomy 13K Wong Ramsey, T P Slavin, G Graham, et al.
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