Polona Le Quesne Stabej

Polona Le Quesne Stabej

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Polona Le Quesne Stabej

Polona Le Quesne Stabej

Publications by authors named "Polona Le Quesne Stabej"

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Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.

J Clin Endocrinol Metab 2019 Dec;104(12):5737-5750

Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1210/jc.2019-00631DOI Listing
December 2019

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

JIMD Rep 2016 8;27:79-84. Epub 2015 Oct 8.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK, WC1N 1EH.

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http://dx.doi.org/10.1007/8904_2015_460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580730PMC
May 2016

STAG3 truncating variant as the cause of primary ovarian insufficiency.

Eur J Hum Genet 2016 Jan 10;24(1):135-8. Epub 2015 Jun 10.

Reproductive Medicine Unit, Institute for Women's Health, University College London Hospitals, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795223PMC
January 2016

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.

Ophthalmology 2014 Feb 5;121(2):580-7. Epub 2013 Nov 5.

UCL Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.09.017DOI Listing
February 2014