Duncan Guthrie Institute Medical Genetics Yorkhill

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Scottish Genetics Centres - NHS Grampian

https://www.nhsgrampian.org/service-hub/north-of-scotland-medical-genetics/scottish-genetics-centres/

Clinical genetics office: 0131 651 1012, 0131 537 1116 Molecular Genetics Lab: 0131 651 ?, 0131 537 1266/1270 Cytogenetics Laboratory: 0131 537 2990 West of Scotland Regional Genetics Service, Duncan Guthrie Institute for Medical Genetics, Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ

Interstitial deletion of the long arm of chromosome 2 with …

https://pubmed.ncbi.nlm.nih.gov/2918541/

We report a 16 year old boy with the abnormal karyotype 46,XY,del (2) (q32.2q33.1) who has mental retardation, microcephaly, epilepsy, craniofacial dysmorphism, distinctive …

Yorkhill Hospitals in Glasgow, Glasgow City G3 8SJ - Doctor360

https://www.doctor360.care/i/yorkhill-hospitals-in-glasgow-glasgow-city-g3-8sj

Contact us and we'll get back to you with your query. Clinic Name: Yorkhill Hospitals. Clinic Address: Duncan Guthrie Institute of Medical Genetics, Glasgow, Glasgow City, …

The Aicardi-Goutières syndrome (familial, early onset

https://pubmed.ncbi.nlm.nih.gov/8592332/

Abstract. Aicardi-Goutières syndrome (Mendelian inheritance in man Catalog No *225750) is an autosomal recessive encephalopathy which causes developmental arrest, …

Is disordered folate metabolism the basis for the genetic ...

https://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.1987.tb02809.x

This study demonstrates an association between susceptibility to offspring with neural tube defects and depressed red cell folate levels which cannot be entirely attributed to a lower …

Genetic aspects of early chiidhood scoliosis - Connor

https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.1320270220

Duncan Guthrie Institute of Medical Genetics, Glasgow, United Kingdom Wellcome Trust Senior Lecturer, Duncan Guthrie Institute of Medical Genetics, Yorkhill Glasgow, G3 …

Prenatal screening for chromosome abnormalities using maternal …

https://obgyn.onlinelibrary.wiley.com/doi/10.1002/pd.1970110204

Abstract Human chorionic gonadotrophin (hCG) levels were assayed retrospectively in stored maternal serum samples from 78 chromosomally abnormal pregnancies and 410 …

Investigation of global developmental delay

https://adc.bmj.com/content/91/8/701

Evidence supporting the use of genetic and biochemical investigations on a screening basis was found, but there was no evidence to support the use of metabolic investigations …

The Duncan Guthrie Institute of Medical Genetics, Glasgow

https://books.google.com/books/about/The_Duncan_Guthrie_Institute_of_Medical.html?id=ODqsMwAACAAJ

The Duncan Guthrie Institute of Medical Genetics, Glasgow Author Duncan Guthrie Institute of Medical Genetics Publisher Duncan Guthrie Institute of Medical Genetics,...

Molecular biology of Turner's syndrome. - PMC

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511250/

A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome. Ann Hum Genet. 1990 Jul;54(Pt 3):209–223. [ PubMed] [ Google Scholar] Chu CE, Donaldson …

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