Institute Of Medical Genetics Yorkhill

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Regional Genetics Centres | Care for Carers

https://www.careforcarers.org.uk/support-info/national/caring-organisations/regional-genetics-centres

Department of Medical Genetics St Mary’s Hospital Hathersage Road Manchester M13 0JH Tel: 0161 276 6506 Fax: 0161 276 6145 Manchester Paediatric Genetics Unit Royal …

Type 1 neurofibromatosis - Symptoms, diagnosis and …

https://bestpractice.bmj.com/topics/en-gb/410

Type 1 neurofibromatosis (NF1) is an autosomal-dominant genetic disorder with the defining features of café au lait spots, multiple neurofibromas, and iris Lisch …

Molecular genetic diagnosis of …

https://jnnp.bmj.com/content/66/1/117.2

Department of Neurology, Institute of Neurosciences, Southern General Hospital, 1345 Govan Road, Glasgow G51 4TF, …

A three generation family with fibrodysplasia ossificans …

https://jmg.bmj.com/content/30/8/687

Abstract. A family with five persons affected with fibrodysplasia ossificans progressiva (myositis ossificans progressiva) in three generations is described. This is …

The clinical presentation caused by truncating CHD8 …

https://pubmed.ncbi.nlm.nih.gov/31001818/

3Academic Department of Medical Genetics, Cambridge University Hospitals NHS Foundation Trust, University of Cambridge, Cambridge, UK. 4Oxford Centre for Genomic …

A three generation family with fibrodysplasia ossificans

https://pubmed.ncbi.nlm.nih.gov/8411056/

1Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK. PMID: 8411056 PMCID: PMC1016500 DOI: 10.1136/jmg.30.8.687 Abstract A family with five persons …

aspects the west - Journal of Medical Genetics

https://jmg.bmj.com/content/jmedgenet/26/1/28.full.pdf

From *the University Department of Medical Genetics, Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow G38SJ; and tFraser ofAllander Assessment Unit, Royal …

Cloning of the gene for the fragile X syndrome: …

https://pubmed.ncbi.nlm.nih.gov/1757954/

1 Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow. PMID: 1757954 PMCID: PMC1017155 DOI: 10.1136/jmg.28.12.811 No abstract available. Publication …

Possible role of imprinting in the Turner phenotype.

https://jmg.bmj.com/content/31/11/840

We have attempted to investigate the role of imprinting in the phenotype of Turner's syndrome. Sixty-three patients were investigated for parental origin of the retained …

Katrine Tang Stenz - Aarhus, Middle Jutland, Denmark

https://dk.linkedin.com/in/ktstenz/en

Katrine Tang Stenz PhD Student in Neuroscience & Stroke research at CFIN, Aarhus University Aarhus, Middle Jutland, Denmark 339 connections

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