Karen J Low

Karen J Low

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Karen J Low

Karen J Low

Publications by authors named "Karen J Low"

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A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay.

Seizure 2018 03 31;56:1-3. Epub 2018 Jan 31.

Department of Clinical Genetics, St. Michaels Hospital, Bristol, UK; School of Clinical Sciences, University of Bristol, Bristol, UK. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2018.01.013DOI Listing
March 2018

A splice-site variant in ANKRD11 associated with classical KBG syndrome.

Am J Med Genet A 2017 Oct 17;173(10):2844-2846. Epub 2017 Aug 17.

University Hospitals Bristol NHS Trust, Bristol, England.

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http://dx.doi.org/10.1002/ajmg.a.38397DOI Listing
October 2017

Rare XXY/XX mosaicism in a phenotypic male presenting as cystic hygroma in the first trimester.

Clin Dysmorphol 2017 Apr;26(2):107-109

Departments of aClinical Genetics bPaediatric Endocrinology cFetal Medicine, University Hospitals Bristol NHS Trust dDepartment of Fetal Medicine eCytogenetics Department, Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000150DOI Listing
April 2017

Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5.

Clin Dysmorphol 2015 Jul;24(3):113-4

aClinical Genetics, St Michaels Hospital, Bristol bBristol Genetics Laboratory Pathology Sciences, Southmead Hospital Bristol, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000069DOI Listing
July 2015

Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft.

Clin Dysmorphol 2012 Jul;21(3):141-3

Clinical Genetics Department, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Southwell St., Bristol, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32835306f0DOI Listing
July 2012