Full Text Journal Articles by
Author E Crushell

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Trainee Knowledge and Perceptions of Less Than Full Time Training.

C Howard, M Golden, P Gavin, E Crushell,

Background Less than full-time (LTFT) training in Ireland is still unusual. Our aim was to identify perceived barriers to LTFT training amongst paediatric trainees and make recommendations to improve knowledge, uptake, and experience of LTFT training. Methods An email questionnaire was disseminated to RCPI paediatric trainees to assess current awareness ... Read more >>

Ir Med J (Irish medical journal)
[2022, 114(9):462]

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Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.

Dina Marek-Yagel, Emily Stenke, Ben Pode-Shakked, Cara Dunne, Ellen Crushell, Anthea Bryce-Smith, Michael McDermott, Maureen J O'Sullivan, Alvit Veber, Mansa Krishnamurthy, James M Wells, Yair Anikster, Billy Bourke,

Congenital diarrheas and enteropathies (CODEs) constitute a heterogeneous group of individually rare disorders manifesting with infantile-onset chronic diarrhea. Genomic deletions in chromosome 16, encompassing a sequence termed the 'intestine-critical region (ICR)', were recently identified as the cause of an autosomal recessive congenital enteropathy. The regulatory sequence within the ICR is ... Read more >>

Hum Genet (Human genetics)
[2022, :]

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