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You searched for: Author/Creator Barrey, Catherine

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1. A randomised trial of high-flow nasal cannula in infants with moderate bronchiolitis. Issue 1 (16th July 2020)

2. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly. Issue 5 (17th April 2012)

3. Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus. Issue 7 (8th May 2019)

4. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. Issue 1 (19th November 2014)