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Items: 7

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. 2018 Nov 12. pii: S1769-7212(18)30160-5. doi: 10.1016/j.ejmg.2018.11.008. [Epub ahead of print]

PMID:
30439532
2.

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

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

Drug Metab Dispos. 2018 Nov 1. pii: dmd.118.084368. doi: 10.1124/dmd.118.084368. [Epub ahead of print]

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. 2018 Oct 15. pii: jmedgenet-2018-105322. doi: 10.1136/jmedgenet-2018-105322. [Epub ahead of print]

PMID:
30323019
4.

Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA.

Eur J Med Genet. 2018 Oct 6. pii: S1769-7212(18)30080-6. doi: 10.1016/j.ejmg.2018.10.003. [Epub ahead of print]

PMID:
30300710
5.

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.

Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S.

Am J Med Genet A. 2018 Feb;176(2):415-420. doi: 10.1002/ajmg.a.38557. Epub 2017 Dec 21.

PMID:
29266745
6.

Randomized trial of enteral protein and energy supplementation in infants less than or equal to 1250 g at birth.

Brumberg HL, Kowalski L, Troxell-Dorgan A, Gettner P, Konstantino M, Poulsen JF, Ehrenkranz RA.

J Perinatol. 2010 Aug;30(8):517-21. doi: 10.1038/jp.2010.10. Epub 2010 Mar 4.

PMID:
20200540
7.

Umbilical venous catheterization and the risk of portal vein thrombosis.

Schwartz DS, Gettner PA, Konstantino MM, Bartley CL, Keller MS, Ehrenkranz RA, Jacobs HC.

J Pediatr. 1997 Nov;131(5):760-2.

PMID:
9403662

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