Sharon F Suchy

Sharon F Suchy

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Sharon F Suchy

Sharon F Suchy

Publications by authors named "Sharon F Suchy"

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12Publications

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation.

J Pediatr Ophthalmol Strabismus 2016 Jul 30;53:e39-42. Epub 2016 Jul 30.

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http://dx.doi.org/10.3928/01913913-20160719-02DOI Listing
July 2016

Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.

Neuromuscul Disord 2014 Apr 24;24(4):331-4. Epub 2013 Dec 24.

GeneDx, Gaithersburg, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2013.12.006DOI Listing
April 2014

Dent Disease with mutations in OCRL1.

Am J Hum Genet 2005 Feb 30;76(2):260-7. Epub 2004 Dec 30.

Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA.

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http://dx.doi.org/10.1086/427887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196371PMC
February 2005

Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry.

Nat Biotechnol 2003 Jul 15;21(7):813-7. Epub 2003 Jun 15.

Howard Hughes Medical Institute, Department of Cell Biology, Yale University School of Medicine, Boyer Center for Molecular Medicine, 295 Congress Avenue, New Haven, Connecticut 06511, USA.

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http://dx.doi.org/10.1038/nbt837DOI Listing
July 2003

The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.

Am J Hum Genet 2002 Dec 11;71(6):1420-7. Epub 2002 Nov 11.

National Human Genome Research Institute, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1086/344517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC378584PMC
December 2002

Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphatase.

Biol Reprod 2002 May;66(5):1522-30

Genetic Diseases Research Branch, National Human Genome Research Institute, Veterinary Resources Program, Office of Director, National Institutes of Health, 49 Convent Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1095/biolreprod66.5.1522DOI Listing
May 2002