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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Am J Hum Genet. 2017 Jan 5;100(1):151-159. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15.
Am J Hum Genet. 2017.
PMID: 27989324
Free PMC article.
De novo 4q duplication/deletion in a fetus with a congenital heart defect.
Dayem-Quere M, Giuliano F, Massol C, Piche M, Paquis-Flucklinger V, Karmous-Benailly H.
Dayem-Quere M, et al.
Am J Med Genet A. 2015 Aug;167A(8):1932-6. doi: 10.1002/ajmg.a.37005. Epub 2015 Jun 19.
Am J Med Genet A. 2015.
PMID: 26097191
No abstract available.
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Delineation of a region responsible for panhypopituitarism in 20p11.2.
Dayem-Quere M, Giuliano F, Wagner-Mahler K, Massol C, Crouzet-Ozenda L, Lambert JC, Karmous-Benailly H.
Dayem-Quere M, et al.
Am J Med Genet A. 2013 Jul;161A(7):1547-54. doi: 10.1002/ajmg.a.35921. Epub 2013 May 8.
Am J Med Genet A. 2013.
PMID: 23657910
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