Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland
Holloway, S M, Wilcox, D E, Wilcox, A, Dean, J C S, Berg, J N, Goudie, D R, Denvir, M A, Porteous, M E M
Published in Heart (British Cardiac Society) (01.05.2008)
Published in Heart (British Cardiac Society) (01.05.2008)
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Journal Article
Long term health and neurodevelopment in children exposed to antiepileptic drugs before birth
Dean, J C S, Hailey, H, Moore, S J, Lloyd, D J, Turnpenny, P D, Little, J
Published in Journal of medical genetics (01.04.2002)
Published in Journal of medical genetics (01.04.2002)
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Journal Article
Phenotype‐driven molecular autopsy for sudden cardiac death
Cann, F., Corbett, M., O'Sullivan, D., Tennant, S., Hailey, H., Grieve, J.H.K., Broadhurst, P., Rankin, R., Dean, J.C.S.
Published in Clinical genetics (01.01.2017)
Published in Clinical genetics (01.01.2017)
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Journal Article
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Olsen, Rikke K. J., Olpin, Simon E., Andresen, Brage S., Miedzybrodzka, Zofia H., Pourfarzam, Morteza, Merinero, Begoña, Frerman, Frank E., Beresford, Michael W., Dean, John C. S., Cornelius, Nanna, Andersen, Oluf, Oldfors, Anders, Holme, Elisabeth, Gregersen, Niels, Turnbull, Douglass M., Morris, Andrew A. M.
Published in Brain (London, England : 1878) (01.08.2007)
Published in Brain (London, England : 1878) (01.08.2007)
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Journal Article
A clinical study of 57 children with fetal anticonvulsant syndromes
Moore, S J, Turnpenny, P, Quinn, A, Glover, S, Lloyd, D J, Montgomery, T, Dean, J C S
Published in Journal of medical genetics (01.07.2000)
Published in Journal of medical genetics (01.07.2000)
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Journal Article
A high frequency of the MTHFR 677C>T polymorphism in Scottish women with epilepsy: Possible role in pathogenesis
Dean, J.C.S, Robertson, Z, Reid, V, Wang, Q, Hailey, H, Moore, S, Rasalam, A.D, Turnpenny, P, Lloyd, D, Shaw, D, Little, J
Published in Seizure (London, England) (01.04.2008)
Published in Seizure (London, England) (01.04.2008)
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Journal Article
Characteristics of fetal anticonvulsant syndrome associated autistic disorder
Rasalam, AD, Hailey, H, Williams, J H G, Moore, S J, Turnpenny, P D, Lloyd, D J, Dean, J C S
Published in Developmental medicine and child neurology (01.08.2005)
Published in Developmental medicine and child neurology (01.08.2005)
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Journal Article
Apparent Fryns' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field
Dean, J C, Couzin, D A, Gray, E S, Lloyd, D J, Stephen, G S
Published in Clinical genetics (01.11.1991)
Published in Clinical genetics (01.11.1991)
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Journal Article
Fragile X syndrome with FMR1 and FMR2 deletion
Moore, S J, Strain, L, Cole, G F, Miedzybrodzka, Z, Kelly, K F, Dean, J C S
Published in Journal of medical genetics (01.07.1999)
Published in Journal of medical genetics (01.07.1999)
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Journal Article
Chromosome 22q11 microdeletion and congenital heart disease--a survey in a paediatric population
Yong, D E, Booth, P, Baruni, J, Massie, D, Stephen, G, Couzin, D, Dean, J C
Published in European journal of pediatrics (01.07.1999)
Published in European journal of pediatrics (01.07.1999)
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Journal Article
Characteristics of fetal anticonvulsant syndrome associated autistic disorder
Rasalam, AD, Hailey, H, Williams, JHG, Moore, SJ, Turnpenny, PD, Lloyd, DJ, Dean, JCS
Published in Developmental medicine and child neurology (01.08.2005)
Published in Developmental medicine and child neurology (01.08.2005)
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Journal Article
Type III collagen mutations cause fragile cerebral arteries
Pope, F M, Kendall, B E, Slapak, G I, Kapoor, R, McDonald, W I, Compston, D A, Mitchell, R, Hope, D T, Millar-Craig, M W, Dean, J C
Published in British journal of neurosurgery (1991)
Published in British journal of neurosurgery (1991)
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Journal Article
Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene
Dean, John Cs, Moore, Susan J, Osborne, Aileen, Howe, Jonathan, Turnpenny, Peter D
Published in Clinical genetics (01.09.1999)
Published in Clinical genetics (01.09.1999)
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Journal Article
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis
Reardon, W, Wilkes, D, Rutland, P, Pulleyn, L J, Malcolm, S, Dean, J C, Evans, R D, Jones, B M, Hayward, R, Hall, C M, Nevin, N C, Baraister, M, Winter, R M
Published in Journal of medical genetics (01.08.1997)
Published in Journal of medical genetics (01.08.1997)
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Journal Article
Life expectancy in British Marfan syndrome populations
Gray, JR, Bridges, AB, West, RR, McLeish, L., Stuart, AG, Dean, JCS, Porteous, MEM, Boxer, M., Davies, SJ
Published in Clinical genetics (01.08.1998)
Published in Clinical genetics (01.08.1998)
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