Publications by authors named "Susan J Moore"

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Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.
Nelly Abdelfatah, David A McComiskey, Lance Doucette, Anne Griffin, Susan J Moore

Eur J Hum Genet· October 2013

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High incidence of pediatric idiopathic epilepsy is associated with familial and autosomal dominant disease in Eastern Newfoundland.
Krista Mahoney, David Buckley, Muhammed Alam, Sharon Penney, Terry-Lynn Young, Susan J Moore

Epilepsy Res· February 2012

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C/EBPalpha and beta couple interfollicular keratinocyte proliferation arrest to commitment and terminal differentiation.
Rodolphe G Lopez, Susana Garcia-Silva, Susan J Moore, Oksana Bereshchenko, Ana B Martinez-Cruz

Nat Cell Biol· October 2009

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Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
Krista Mahoney, Susan J Moore, David Buckley, Muhammed Alam, Patrick Parfrey

Seizure· September 2009

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Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders.
Michael P Webb, Elizabeth L Dicks, Jane S Green, Susan J Moore, Geoff M Warden

Kidney Int· July 2009

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Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.
Susan J Moore, Jane S Green, Yanli Fan, Ashvinder K Bhogal, Elizabeth Dicks

Am J Med Genet A· February 2005

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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Yanli Fan, Muneer A Esmail, Stephen J Ansley, Oliver E Blacque, Keith Boroevich, Susan J Moore

Nat Genet· September 2004

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NKIAMRE, a novel conserved CDC2-related kinase with features of both mitogen-activated protein kinases and cyclin-dependent kinases.
Karen W L Yee, Susan J Moore, Michael Midmer, Brent W Zanke, Frances Tong

Biochem Biophys Res Commun· September 2003

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The role of advanced practice nurses in community settings.
Sandy C Burgener, Susan J Moore

Nurs Econ· August 2002

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Ophthalmic findings in fetal anticonvulsant syndrome(s).
Simon J Glover, Anthony G Quinn, Philippa Barter, Jane Hart, Susan J Moore

Ophthalmology· May 2002

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