Melissa M Lees

Melissa M Lees

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Melissa M Lees

Melissa M Lees

Publications by authors named "Melissa M Lees"

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De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.

Mol Genet Genomic Med 2016 Jul 3;4(4):465-74. Epub 2016 Apr 3.

Centre for Genomic & Experimental MedicineMRC Institute of Genetics and Molecular MedicineUniversity of EdinburghWestern General HospitalCrewe RoadEdinburghEH4 2XUUK; Muir Maxwell Epilepsy CentreUniversity of Edinburgh20 Sylvan PlaceEdinburghEH9 1UWUK.

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http://dx.doi.org/10.1002/mgg3.219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947865PMC
July 2016

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Pediatr Nephrol 2011 Aug 20;26(8):1331-4. Epub 2011 May 20.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00467-011-1884-zDOI Listing
August 2011

Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: expanding the phenotype to include vascular anomalies.

Am J Med Genet A 2011 Mar 18;155A(3):577-81. Epub 2011 Feb 18.

Department of Dermatology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.33104DOI Listing
March 2011

Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy.

J Pediatr Surg 2008 Sep;43(9):1736-40

Department of Pediatric Surgery, King's College Hospital, SE5 9RS London, United Kingdom.

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http://dx.doi.org/10.1016/j.jpedsurg.2008.05.012DOI Listing
September 2008

Two siblings with an unusual nasal malformation: further instances of craniorhiny?

Am J Med Genet A 2007 Dec;143A(24):3290-4

Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.32026DOI Listing
December 2007

Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome?

Clin Dysmorphol 2006 Jul;15(3):155-9

North Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1097/01.mcd.0000204987.61990.f0DOI Listing
July 2006