Search details
1.
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Am J Med Genet A
; 170(12): 3150-3156, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27576954
2.
CRTAP mutation in a patient with Cole-Carpenter syndrome.
Am J Med Genet A
; 167A(3): 587-91, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25604815
3.
A genetic study of Wilson's disease in the United Kingdom.
Brain
; 136(Pt 5): 1476-87, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23518715
4.
PPIB mutations cause severe osteogenesis imperfecta.
Am J Hum Genet
; 85(4): 521-7, 2009 Oct.
Article
in English
| MEDLINE | ID: mdl-19781681
5.
Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia.
J Pediatr Endocrinol Metab
; 25(9-10): 963-7, 2012.
Article
in English
| MEDLINE | ID: mdl-23426827
6.
Type 1 collagenopathy presenting with a Russell-Silver phenotype.
Am J Med Genet A
; 155A(6): 1414-8, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21567925
7.
Computer-based rhythm and timing training in severe, stroke-induced arm hemiparesis.
Am J Occup Ther
; 65(1): 96-100, 2011.
Article
in English
| MEDLINE | ID: mdl-21309376
8.
A deliberative study of public attitudes towards sharing genomic data within NHS genomic medicine services in England.
Public Underst Sci
; 29(7): 702-717, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32664786
9.
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).
Neurogenetics
; 10(2): 105-10, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19034539
10.
Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service.
Int J Neonatal Screen
; 5(4): 40, 2019 Dec.
Article
in English
| MEDLINE | ID: mdl-31844782
11.
Failure to repair the c.338C>T mutation in carnitine palmitoyl transferase 2 deficient skin fibroblasts using chimeraplasty.
Mol Genet Metab
; 93(3): 347-9, 2008 Mar.
Article
in English
| MEDLINE | ID: mdl-18024217
12.
Age-dependent cognitive changes in carriers of the fragile X syndrome.
Cortex
; 44(6): 628-36, 2008 Jun.
Article
in English
| MEDLINE | ID: mdl-18472033
13.
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
Hum Mutat
; 27(7): 716, 2006 Jul.
Article
in English
| MEDLINE | ID: mdl-16786509
14.
Fetal mesenchymal stem-cell engraftment in bone after in utero transplantation in a patient with severe osteogenesis imperfecta.
Transplantation
; 79(11): 1607-14, 2005 Jun 15.
Article
in English
| MEDLINE | ID: mdl-15940052
15.
Genetic testing in the assessment of living related kidney donors at risk of autosomal dominant polycystic kidney disease.
Transplantation
; 99(5): 1023-9, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25340609
16.
Social deprivation, population dependency ratio and an extended hospital episode - Insights from acute medicine.
Eur J Intern Med
; 26(9): 714-9, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26371866
17.
Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study.
Clin Dysmorphol
; 24(2): 45-54, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25436829
18.
Genotype-phenotype study in type V osteogenesis imperfecta.
Clin Dysmorphol
; 22(3): 93-101, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23612438
19.
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Eur J Hum Genet
; 17(12): 1560-9, 2009 Dec.
Article
in English
| MEDLINE | ID: mdl-19550437
20.
Glycogen storage disease type IX: High variability in clinical phenotype.
Mol Genet Metab
; 92(1-2): 88-99, 2007.
Article
in English
| MEDLINE | ID: mdl-17689125