Ingrid Scurr

Ingrid Scurr

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Ingrid Scurr

Ingrid Scurr

Publications by authors named "Ingrid Scurr"

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13Publications

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Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.

Arch Dis Child 2019 Sep 3. Epub 2019 Sep 3.

Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/archdischild-2018-316547DOI Listing
September 2019

Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd.

Eur J Med Genet 2019 Apr 23. Epub 2019 Apr 23.

Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.04.014DOI Listing
April 2019

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

Eur J Med Genet 2019 Jan 23;62(1):27-34. Epub 2018 Apr 23.

West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.04.014DOI Listing
January 2019

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

Clinical utility gene card for: Cantú syndrome.

Eur J Hum Genet 2017 04 4;25(4). Epub 2017 Jan 4.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1038/ejhg.2016.185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386410PMC
April 2017

Extreme phenotypes of Loeys Dietz syndrome.

Clin Dysmorphol 2017 Apr;26(2):91-94

aBristol Genetics Serivce bBristol Heart Institute, UHBristol NHS Foundation Trust, Bristol, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000173DOI Listing
April 2017

A report of a new case of an interstitial deletion at 3p25.3 and expansion of the clinical phenotype.

Clin Dysmorphol 2014 Apr;23(2):63-6

aDepartment of Clinical Genetics, St Michael's Hospital bDepartment of Paediatric Ophthalmology, University Hospitals Bristol cCentre for Child and Adolescent Health, School of Social and Community Medicine, University of Bristol, Bristol dNational Genetics Education and Development Centre, Birmingham Women's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000030DOI Listing
April 2014