نتائج البحث - R. Surtees
- يعرض 1 - 7 نتائج من 7
-
1
-
2
-
3
Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? حسب Kevin Talbot, Chris P. Ponting, Aspasia Theodosiou, Nanda R. Rodrigues, R. Surtees, R. Mountford, Kay E. Davies
منشور في 1997Artigo -
4
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members حسب NiCole A. Finch, Matthew B. Baker, Richard Crook, Kristin R. Swanson, Karen M. Kuntz, R. Surtees, Gina Bisceglio, Anne Rovelet‐Lecrux, Bradley Boeve, Ronald C. Petersen, Dennis W. Dickson, Samuel Younkin, Vincent Deramecourt, Julia E. Crook, Neill R. Graff‐Radford, R. Rademakers
منشور في 2009Artigo -
5
Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I) حسب S. Kölker, E. Christensen, James V. Leonard, Cheryl R. Greenberg, Alberto Burlina, Alessandro P. Burlina, Marjorie Dixon, M. Durán, Stephen I. Goodman, David M. Koeller, Edith Müller, E. R. Naughten, Eva Neumaier‐Probst, Jürgen G. Okun, Mårten Kyllerman, R. Surtees, Bridget Wilcken, Georg F. Hoffmann, Peter Burgard
منشور في 2007Artigo -
6
Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. حسب D. P. Brenton, Jean Chapple, B. J. Clark, G. Curzon, Dylan Davidson, S. C. Laing, A Lister- Cheese, Ian R. McDonald, S.L. Malcolm, R. J. Pollitt, Derrick Quinn, G Rylance, Isabel Smith, Ann Stewart, R. Surtees, Alan J. Thompson, Linda Tyfield, M. J. Whittle, C. R. Scriver
منشور في 1993Artigo -
7
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) حسب Tracy A. Briggs, Ghada M. H. Abdel‐Salam, Maryagnes R. Balicki, Peter Baxter, Enrico Bertini, Nick Bishop, B H Browne, David Chitayat, W.K. Chong, Maha M. Eid, William Halliday, Imelda Hughes, A. Klusmann‐Koy, Mary Kurian, Ken K. Nischal, Gillian Rice, John B.P. Stephenson, R. Surtees, J F Talbot, Nasrin Tehrani, John Tolmie, Carmel Toomes, Marjo S. van der Knaap, Yanick J. Crow
منشور في 2007Artigo
أدوات البحث:
موضوعات ذات صلة
Medicine
Internal medicine
Disease
Amino acid
Biochemistry
Biology
Pathology
Pediatrics
Chemistry
Endocrinology
Gene
Genetics
Mutation
Pathogenesis
Age of onset
Anesthesia
Asymptomatic
Asymptomatic carrier
Calcification
Calcinosis
Carnitine
Cerebral Malaria
Cerebrospinal fluid
Coats' disease
Cobalamin
Dementia
Diabetes mellitus
Dietary management
Dystonia
Family medicine