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Items: 4

1.

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.

Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA.

Eur J Med Genet. 2019 Nov;62(11):103574. doi: 10.1016/j.ejmg.2018.11.008. Epub 2018 Nov 12.

PMID:
30439532
2.

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome.

Elfar W, Järvinen E, Ji W, Mosorin J, Sega AG, Iuga AC, Lobritto SJ, Konstantino M, Chan A, Finel M, Lakhani SA.

Drug Metab Dispos. 2019 Jan;47(1):45-48. doi: 10.1124/dmd.118.084368. Epub 2018 Nov 1.

PMID:
30385458
3.

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.

Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA.

J Med Genet. 2019 Feb;56(2):113-122. doi: 10.1136/jmedgenet-2018-105322. Epub 2018 Oct 15.

PMID:
30323019
4.

Preparation and characterization of pore-wall modification gradients generated on porous silicon photonic crystals using diazonium salts.

Thompson CM, Ruminski AM, Sega AG, Sailor MJ, Miskelly GM.

Langmuir. 2011 Jul 19;27(14):8967-73. doi: 10.1021/la201272e. Epub 2011 Jun 23.

PMID:
21699156

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