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An Atypical Case of Very Early-onset Familial Adenomatous Polyposis Associated With Focal Cortical Dysplasia

Autor: Patrick Yap, Amin J Roberts, Asher Henry, Magreet Strauss, Rakesh Patel, Helen M. Evans, Vivek Rajasekaran, Mark Greenslade

Publikováno v: Journal of Pediatric Hematology/Oncology. 44:e743-e746

We describe a female toddler with rectal bleeding from extensive colonic polyposis, and diagnosed with familial adenomatous polyposis. She has epilepsy from infancy attributed to focal cortical dysplasia. Hepatoblastoma was diagnosed at 13 months of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e82bceb3c474d5c97771cdb5ff980ee2
https://doi.org/10.1097/mph.0000000000002256

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Akademický článek

Policies of access to healthcare services for accompanied asylum-seeking children in the Nordic countries

Autor: SANDAHL, HINUGA, NORREDAM, MARIE, HJERN, ANDERS, ASHER, HENRY, NIELSEN, SIGNE SMITH

Publikováno v: Scandinavian Journal of Public Health, 2013 Jan 01. 41(6), 630-636.

Externí odkaz: https://www.jstor.org/stable/45180466

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Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome

Autor: Asher, Henry, Isaac, Bernhardt, Ian, Hayes, Bryan, Mitchelson

Publikováno v: Clinical Genetics. 102:461-462

PPP1R13L-associated cardiocutaneous syndrome is an autosomal recessive condition that presents with life-threatening dilated cardiomyopathy in early childhood, with or without features of inflammation on cardiac histology. There is also a variably ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f3d42f37b83864319095e31306dc44
https://doi.org/10.1111/cge.14199

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