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(105 results)?
Partial trisomy 2q: report of a patient with dup (2)(q33.1q35).
Am J Med Genet A. 2005 Apr 1;134A(1):80-3. doi: 10.1002/ajmg.a.30463.
Am J Med Genet A. 2005.
PMID: 15690398
Review.
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA; Inborn Errors of Metabolism Collaborative.
Bentler K, et al.
Mol Genet Metab. 2016 Sep;119(1-2):75-82. doi: 10.1016/j.ymgme.2016.07.002. Epub 2016 Jul 15.
Mol Genet Metab. 2016.
PMID: 27477829
Free PMC article.
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The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup.
Berry SA, Jurek AM, Anderson C, Bentler K; Region 4 Genetics Collaborative Priority 2 Workgroup.
Berry SA, et al.
Genet Med. 2010 Dec;12(12 Suppl):S215-9. doi: 10.1097/GIM.0b013e3181fe5d23.
Genet Med. 2010.
PMID: 21150367
Free article.
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Monosomy 6q1: syndrome delineation.
Romie SS, Hartsfield JK Jr, Sutcliffe MJ, Dumont DP, Kousseff BG.
Romie SS, et al.
Am J Med Genet. 1996 Mar 15;62(2):105-8. doi: 10.1002/(SICI)1096-8628(19960315)62:2<105::AID-AJMG1>3.0.CO;2-V.
Am J Med Genet. 1996.
PMID: 8882389
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