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Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach

Translational psychiatry, 2014-06, Vol.4 (6), p.e394-e394

2014

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HFE mutations, iron deficiency and overload in 10 500 blood donors

British journal of haematology, 2001-08, Vol.114 (2), p.474-484

2001

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Early progressive encephalopathy in boys and MECP2 mutations

Neurology, 2006-07, Vol.67 (1), p.164

2006

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Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients

Gut, 2006-04, Vol.55 (4), p.554-562

2006

Volltextzugriff (PDF)

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Clinical genetics, 2012-12, Vol.82 (6), p.526-533

2012

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Development and Validation of a Family History Screening Questionnaire in Australian Primary Care

Annals of family medicine, 2014-05, Vol.12 (3), p.241-249

2014

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Population based study of late onset cerebellar ataxia in south east Wales

Journal of neurology, neurosurgery and psychiatry, 2004-08, Vol.75 (8), p.1129-1134

2004

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Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

Nature genetics, 1993-12, Vol.5 (4), p.359-362

1993

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Rett syndrome in Australia: A review of the epidemiology

The Journal of pediatrics, 2006-03, Vol.148 (3), p.347-352

2006

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Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2

Archives of disease in childhood. Fetal and neonatal edition, 2003-05, Vol.88 (3), p.F250

2003

Volltextzugriff (PDF)

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD

Journal of medical genetics, 1997-06, Vol.34 (6), p.476-479

1997

Volltextzugriff (PDF)

Growth in Sotos syndrome

Archives of disease in childhood, 1999-04, Vol.80 (4), p.339-342

1999

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Episodic ataxia type 2: Three novel truncating mutations and one novel missense mutation in the CACNA1A gene

Journal of neurology, 2002-11, Vol.249 (11), p.1515-1519

2002

Volltextzugriff (PDF)

Eight years' experience of direct molecular testing for myotonic dystrophy in Wales

Journal of medical genetics, 2001-12, Vol.38 (12), p.e42-42

2001

Volltextzugriff (PDF)

Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families : linkage and loss of heterozygosity

American journal of human genetics, 1993-09, Vol.53 (3), p.760-767

1993

Volltextzugriff (PDF)

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

Journal of the American Society of Nephrology, 2003-05, Vol.14 (5), p.1164-1174

2003

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Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene

American journal of human genetics, 1997-10, Vol.61 (4), p.843-851

1997

Volltextzugriff (PDF)

Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder

Journal of medical genetics, 2001-07, Vol.38 (7), p.493-496

2001

Volltextzugriff (PDF)

Dominant inheritance of optic pits

American journal of ophthalmology, 1998, Vol.125 (1), p.124-124

1998

Volltextzugriff (PDF)

NTNG1 mutations are a rare cause of Rett syndrome

American journal of medical genetics. Part A, 2006-04, Vol.140A (7), p.691-694

2006

Volltextzugriff (PDF)

Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in PKD1 adult polycystic kidney disease

Kidney international, 1997-09, Vol.52 (3), p.607-613

1997

Volltextzugriff (PDF)

Location of mutations within the PKD2 gene influences clinical outcome

Kidney international, 2000-04, Vol.57 (4), p.1444-1451

2000

Volltextzugriff (PDF)

Screening for hereditary haemochromatosis within families and beyond

The Lancet (British edition), 2003-12, Vol.362 (9399), p.1897-1898

2003

Volltextzugriff (PDF)

Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12

Kidney international, 2001-10, Vol.60 (4), p.1233-1239

2001

Volltextzugriff (PDF)

An Ultrasound Renal Cyst Prevalence Survey: Specificity Data for Inherited Renal Cystic Diseases

American journal of kidney diseases, 1993-12, Vol.22 (6), p.803-807

1993

Volltextzugriff (PDF)

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Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach

HFE mutations, iron deficiency and overload in 10 500 blood donors

Early progressive encephalopathy in boys and MECP2 mutations

Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Development and Validation of a Family History Screening Questionnaire in Australian Primary Care

Population based study of late onset cerebellar ataxia in south east Wales

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

Rett syndrome in Australia: A review of the epidemiology

Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD

Growth in Sotos syndrome

Episodic ataxia type 2: Three novel truncating mutations and one novel missense mutation in the CACNA1A gene

Eight years' experience of direct molecular testing for myotonic dystrophy in Wales

Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families : linkage and loss of heterozygosity

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene

Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder

Dominant inheritance of optic pits

NTNG1 mutations are a rare cause of Rett syndrome

Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in PKD1 adult polycystic kidney disease

Location of mutations within the PKD2 gene influences clinical outcome

Screening for hereditary haemochromatosis within families and beyond

Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12

An Ultrasound Renal Cyst Prevalence Survey: Specificity Data for Inherited Renal Cystic Diseases

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