Výsledky vyhledávání - "Stuart H. Green"

Gonosomal Mosaicism for a Nonsense Mutation (R1947X) in the NF1 Gene in Segmental Neurofibromatosis Type 1

Autor: David Neil Cooper, Stuart H. Green, Debra Balderson, Claudia Consoli, Celia Moss, Meena Upadhyaya

Publikováno v: Journal of Investigative Dermatology. 125(3):463-466

Segmental neurofibromatosis type 1 (SNF1), characterized by the regionally limited distribution of neurofibromatosis type 1 (NF1) features, has been attributed to mosaicism for an NF1 gene mutation. The occurrence of classical NF1 in the offspring of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0925986cb61736acf830a38b204b3eb7

Zobrazit plný text záznamu

Clinical spectrum associated with cerebellar hypoplasia

Autor: Paul Davies, Stuart H. Green, William P Whitehouse, Evangeline Wassmer

Publikováno v: Pediatric Neurology. 28:347-351

We reviewed 45 children with cerebellar hypoplasia on magnetic resonance imaging to identify clinical features associated with cerebellar hypoplasia. We then studied children presenting with any likely associated clinical feature of cerebellar hypopl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7c8a32604b0d3b48a5b9809a419ef05
https://doi.org/10.1016/s0887-8994(03)00016-x

Zobrazit plný text záznamu

Chronic and recurrent headache

Autor: Stuart H. Green

Publikováno v: Current Paediatrics. 12:186-190

This chapter considers a practical overview to the diagnosis and management of migraine and chronic headaches in childhood. They are very common, up to 10% in some series. History is very important, the nature of the pain,its radiation and initiating

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4724c9302835010eaa0261933d73296e
https://doi.org/10.1054/cupe.2002.0282

Zobrazit plný text záznamu

Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation

Autor: J Winer, A Green, Stuart H. Green, M A Preece, R. G. F. Gray, William P Whitehouse

In 1927 Archibald Garrod presented the Huxley Lecture at Charing Cross Hospital1 Out of this lecture emerged the concept of an “inborn error of metabolism” whereby an inherited defect may lead to the accumulation in cells or body fluids of a meta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff98499216b8de6832ed958e6a7ee9c7
https://europepmc.org/articles/PMC1737019/

Zobrazit plný text záznamu

Spontaneous rupture of the diaphragm

Autor: Peter H Weller, Ali Akbar, Jane R. Clarke, Helen Alton, Stuart H Green, Dakshesh Parikh

Publikováno v: Archives of disease in childhood. 81(4)

A 2.5 year old girl with metachromatic leukodystrophy presented with acute respiratory distress and was initially wrongly diagnosed with pneumothorax. Barium meal showed bowel loops in the left hemithorax, which prompted surgical intervention; sponta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0bfea33c1cd8a87e1ba1f99a306be69
https://pubmed.ncbi.nlm.nih.gov/10490442

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání