Helen Waller-Evans

Helen Waller-Evans

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Helen Waller-Evans

Helen Waller-Evans

Publications by authors named "Helen Waller-Evans"

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9Publications

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Lysosomal Ca Homeostasis and Signaling in Health and Disease.

Cold Spring Harb Perspect Biol 2019 Oct 25. Epub 2019 Oct 25.

Medicines Discovery Institute, Cardiff University, Cardiff CF10 3AT, United Kingdom.

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http://dx.doi.org/10.1101/cshperspect.a035311DOI Listing
October 2019

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Am J Hum Genet 2018 11 25;103(5):794-807. Epub 2018 Oct 25.

National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
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http://dx.doi.org/10.1016/j.ajhg.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218603PMC
November 2018

Regulation of TRPML1 function.

Biochem Soc Trans 2015 Jun;43(3):442-6

*School of Biosciences, Sir Martin Evans building, Cardiff University, Museum Avenue, Cardiff, CF15 8AZ, U.K.

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http://dx.doi.org/10.1042/BST20140311DOI Listing
June 2015

Endolysosomal calcium regulation and disease.

Biochem Soc Trans 2010 Dec;38(6):1458-64

Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.

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http://dx.doi.org/10.1042/BST0381458DOI Listing
December 2010