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Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.
Am J Med Genet A. 2021 Oct;185(10):3136-3145. doi: 10.1002/ajmg.a.62391. Epub 2021 Jul 5.
Am J Med Genet A. 2021.
PMID: 34223693
Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.
Nickerson SL, Balasubramaniam S, Dryland PA, Love JM, Kava MP, Love DR, Prosser DO.
Nickerson SL, et al.
J Pediatr Genet. 2016 Sep;5(3):174-80. doi: 10.1055/s-0036-1584358. Epub 2016 Jun 15.
J Pediatr Genet. 2016.
PMID: 27617160
Free PMC article.
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SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.
Nickerson SL, Marquis-Nicholson R, Claxton K, Ashton F, Leong IU, Prosser DO, Love JM, George AM, Taylor G, Wilson C, Gardner RJ, Love DR.
Nickerson SL, et al.
Microarrays (Basel). 2015 Oct 23;4(4):490-502. doi: 10.3390/microarrays4040490.
Microarrays (Basel). 2015.
PMID: 27600236
Free PMC article.
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