Publications by authors named "Maria Cristina Schiaffino"

14Publications

A mild impairment of KATP channel function caused by two different ABCC8 defects in an Italian newborn.

Acta Diabetol 2018 Feb 19;55(2):201-203. Epub 2017 Sep 19.

Pediatric Clinic, Regional Center for Pediatric Diabetes, Istituto Giannina Gaslini, Via Gaslini 5, 16147, Genoa, Italy.

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February 2018

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Eur J Hum Genet 2014 Aug 8;22(8):988-94. Epub 2014 Jan 8.

1] Telethon Institute of Genetics and Medicine, Naples, Italy [2] Department of Translational Medicine, Federico II University of Naples, Naples, Italy.

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August 2014

A new SPINK5 mutation in a patient with Netherton syndrome: a case report.

Pediatr Dermatol 2012 Jul-Aug;29(4):521-2. Epub 2011 Jun 22.

Department of Pediatrics, Institute Giannina Gaslini IRCCS, Genoa, Italy.

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November 2012