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High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis

Journal of medical genetics, 2008-06, Vol.45 (6), p.355-361

2008

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Molecular analysis and clinical correlations of the Huntington's disease mutation

The Lancet (British edition), 1993-10, Vol.342 (8877), p.954-958

1993

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Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

Nature genetics, 1993-08, Vol.4 (4), p.393-397

1993

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Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred

American journal of kidney diseases, 2000-04, Vol.35 (4), p.753-760

2000

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Familial phenotype differences in PKD1

Kidney international, 1999-07, Vol.56 (1), p.34-40

1999

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Linkage disequilibrium in Huntington's disease: an improved localisation for the gene

Journal of medical genetics, 1989-11, Vol.26 (11), p.673-675

1989

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Exclusion testing in pregnancy for Huntington's disease

Journal of medical genetics, 1990-08, Vol.27 (8), p.488-495

1990

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Immunohistological evidence for second or somatic mutations as the underlying cause of dystrophin expression by isolated fibres in Xp21 muscular dystrophy of Duchenne-type severity

Journal of the neurological sciences, 1993-08, Vol.118 (1), p.56-63

1993

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Huntington's disease: predictive testing and the molecular genetics laboratory

Clinical genetics, 1993-03, Vol.43 (3), p.150-156

1993

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Adult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population

Journal of medical genetics, 1987-08, Vol.24 (8), p.466-473

1987

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RFLP for the human erb-Aβ locus

Nucleic acids research, 1988-06, Vol.16 (11), p.5224-5224

1988

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Mutations in TITF-1 are associated with benign hereditary chorea

Human molecular genetics, 2002-04, Vol.11 (8), p.971-979

2002

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Mbol RFLP at the D4S43 (C4H) locus

Nucleic acids research, 1991-10, Vol.19 (19), p.5445-5445

1991

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Five years experience of predictive testing for myotonic dystrophy using linked DNA markers

American journal of medical genetics, 1992-08, Vol.43 (6), p.1006-1011

1992

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MboI RFLP at the D4S43 (C4H) locus

Nucleic acids research, 1991-10, Vol.19 (19), p.5445-5445

1991

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Familial phenotype differences in PKD11

Kidney international, 1999-07, Vol.56 (1), p.34-40

1999

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The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy

Nature (London), 2015-08, Vol.524 (7565), p.309-314

2015

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Parkin inhibits BAK and BAX apoptotic function by distinct mechanisms during mitophagy

The EMBO journal, 2019-01, Vol.38 (2), p.n/a

2019

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Salvage or Solution: Alloplastic Reconstruction in Hemifacial Microsomia

The Cleft palate-craniofacial journal, 2019-08, Vol.56 (7), p.896-901

2019

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Exposure of the inner mitochondrial membrane triggers apoptotic mitophagy

Cell death and differentiation, 2024-03, Vol.31 (3), p.335-347

2024

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Early onset seizures and Rett-like features associated with mutations in CDKL5

European journal of human genetics : EJHG, 2005-10, Vol.13 (10), p.1113-1120

2005

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Urology residency training in Greece. Results from the first national resident survey

Actas urológicas españolas (English ed.), 2021-10

2021

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Patient positioning during percutaneous nephrolithotomy: what is the current best practice?

Research and reports in urology, 2018-01, Vol.10, p.189-193

2018

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High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis

Molecular analysis and clinical correlations of the Huntington's disease mutation

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred

Familial phenotype differences in PKD1

Linkage disequilibrium in Huntington's disease: an improved localisation for the gene

Exclusion testing in pregnancy for Huntington's disease

Immunohistological evidence for second or somatic mutations as the underlying cause of dystrophin expression by isolated fibres in Xp21 muscular dystrophy of Duchenne-type severity

Huntington's disease: predictive testing and the molecular genetics laboratory

Adult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population

RFLP for the human erb-Aβ locus

Mutations in TITF-1 are associated with benign hereditary chorea

Mbol RFLP at the D4S43 (C4H) locus

Five years experience of predictive testing for myotonic dystrophy using linked DNA markers

MboI RFLP at the D4S43 (C4H) locus

Familial phenotype differences in PKD11

The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy

Parkin inhibits BAK and BAX apoptotic function by distinct mechanisms during mitophagy

Ethical challenges of using remote monitoring technologies for clinical research: A case study of the role of local research ethics committees in the RADAR-AD study

Correction: Ethical challenges of using remote monitoring technologies for clinical research: A case study of the role of local research ethics committees in the RADAR-AD study

Salvage or Solution: Alloplastic Reconstruction in Hemifacial Microsomia

Exposure of the inner mitochondrial membrane triggers apoptotic mitophagy

Early onset seizures and Rett-like features associated with mutations in CDKL5

Urology residency training in Greece. Results from the first national resident survey

Patient positioning during percutaneous nephrolithotomy: what is the current best practice?

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