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Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis

British journal of cancer, 2010-09, Vol.103 (6), p.918-924

2010

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Friedreich ataxia: an overview

Journal of medical genetics, 2000-01, Vol.37 (1), p.1-8

2000

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Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3

Journal of medical genetics, 2004-09, Vol.41 (9), p.669-678

2004

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Mutations of the Flavin-Containing Monooxygenase Gene (FMO3) cause Trimethylaminuria, a Defect in Detoxication

Human molecular genetics, 1998-05, Vol.7 (5), p.839-845

1998

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A new autosomal dominant pure cerebellar ataxia

Neurology, 2001-11, Vol.57 (10), p.1913-1915

2001

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Diagnostic accuracy of a prototype rapid chlamydia and gonorrhoea recombinase polymerase amplification assay: a multicentre cross-sectional preclinical evaluation

Clinical microbiology and infection, 2019-03, Vol.25 (3), p.380.e1-380.e7

2019

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Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5

Neurology, 2006-12, Vol.67 (11), p.2084-2085

2006

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Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

The Lancet (British edition), 1992-11, Vol.340 (8831), p.1330-1333

1992

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Association between hormonal genetic polymorphisms and early-onset prostate cancer

Prostate cancer and prostatic diseases, 2005-03, Vol.8 (1), p.95-102

2005

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Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

Nature (London), 1990-01, Vol.343 (6254), p.180-182

1990

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Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene

Journal of medical genetics, 1998-09, Vol.35 (9), p.713-716

1998

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Early-onset Alzheimerʼs disease caused by a novel mutation at codon 219 of the presenilin-1 gene

Neuroreport, 1999-02, Vol.10 (3), p.503-507

1999

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Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia

Annals of neurology, 1999-05, Vol.45 (5), p.673-675

1999

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Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study

Journal of medical genetics, 1996-02, Vol.33 (2), p.157-160

1996

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G130V, a common FRDA point mutation, appears to have arisen from a common founder

Human genetics, 1999-10, Vol.105 (4), p.343-346

1999

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Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata

Journal of medical genetics, 1998-12, Vol.35 (12), p.1004-1008

1998

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Preferential deletion of exons in Duchenne and Becker muscular dystrophies

Nature (London), 1987-10, Vol.329 (6140), p.638-640

1987

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Clinical and genetic study of Friedreich ataxia in an Australian population

American journal of medical genetics, 1999-11, Vol.87 (2), p.168-174

1999

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X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26

American journal of human genetics, 1997-04, Vol.60 (4), p.910-916

1997

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The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene

Neurogenetics, 1998-08, Vol.1 (4), p.253-257

1998

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No evidence of germline PTEN mutations in familial prostate cancer

Journal of medical genetics, 2000-03, Vol.37 (3), p.210-212

2000

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Comparison of genotype and intellectual phenotype in untreated PKU patients

Journal of medical genetics, 1993-05, Vol.30 (5), p.401-405

1993

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Mutation detection in phenylketonuria by using chemical cleavage of mismatch : importance of using probes from both normal and patient samples

American journal of human genetics, 1991-07, Vol.49 (1), p.175-183

1991

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The relationship between neonatal immunoreactive trypsinogen, ΔF508, and IVS8-5T

Journal of medical genetics, 2000-08, Vol.37 (8), p.629-632

2000

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Genotype and intellectual phenotype in untreated phenylketonuria patients

Pediatric research, 1999-04, Vol.45 (4), p.474-481

1999

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Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis

Friedreich ataxia: an overview

Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3

Mutations of the Flavin-Containing Monooxygenase Gene (FMO3) cause Trimethylaminuria, a Defect in Detoxication

A new autosomal dominant pure cerebellar ataxia

Diagnostic accuracy of a prototype rapid chlamydia and gonorrhoea recombinase polymerase amplification assay: a multicentre cross-sectional preclinical evaluation

Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

Association between hormonal genetic polymorphisms and early-onset prostate cancer

Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene

Early-onset Alzheimerʼs disease caused by a novel mutation at codon 219 of the presenilin-1 gene

Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia

Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study

G130V, a common FRDA point mutation, appears to have arisen from a common founder

Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

Clinical and genetic study of Friedreich ataxia in an Australian population

X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26

The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene

No evidence of germline PTEN mutations in familial prostate cancer

Comparison of genotype and intellectual phenotype in untreated PKU patients

Mutation detection in phenylketonuria by using chemical cleavage of mismatch : importance of using probes from both normal and patient samples

The relationship between neonatal immunoreactive trypsinogen, ΔF508, and IVS8-5T

Genotype and intellectual phenotype in untreated phenylketonuria patients

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