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A follow-up study of mortality, health conditions and associated disabilities of people with intellectual disabilities in a Swedish county

Journal of intellectual disability research, 2005-12, Vol.49 (12), p.905-914

2005

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Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

Annals of neurology, 1999-02, Vol.45 (2), p.200-206

1999

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Re-evaluation of the dysequilibrium syndrome

Acta neurologica Scandinavica, 2011-01, Vol.123 (1), p.28-33

2011

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Mild intellectual disability in children in Lahore, Pakistan: Aetiology and risk factors

Journal of intellectual disability research, 2004-10, Vol.48 (7), p.663-671

2004

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Prevalence of beta-thalassaemia and sickle cell traits in premarital screening in Al-Qassim, Saudi Arabia

Genetic counseling, 2008, Vol.19 (2), p.211

2008

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Prevalence and associated impairments of mild mental retardation in six- to ten-year old children in Pakistan: a prospective study

Acta Paediatrica, 2002-07, Vol.91 (7), p.833-837

2002

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Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium

American journal of human genetics, 1995-07, Vol.57 (1), p.95-102

1995

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Severe mental retardation in 2 to 24-month-old children in Lahore, Pakistan: a prospective cohort study

Acta Paediatrica, 1995-03, Vol.84 (3), p.267-272

1995

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The gene for Best's macular dystrophy is located at 11q13 in a Swedish family

Clinical genetics, 1992-09, Vol.42 (3), p.156-159

1992

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The Sjögren-Larsson Syndrome gene is close to D17S805 as determined by linkage analysis and allelic association

Nature genetics, 1994-12, Vol.8 (4), p.361-364

1994

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Risk factors for mortality in young children living under various socio-economic conditions in Lahore, Pakistan: with particular reference to inbreeding

Clinical genetics, 1998-11, Vol.54 (5), p.426-434

1998

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Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene

Human molecular genetics, 1992-06, Vol.1 (3), p.195-198

1992

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Linkage mapping of a severe X-linked mental retardation syndrome

American journal of human genetics, 1993-06, Vol.52 (6), p.1046-1052

1993

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Further evidence of genetic homogeneity in Sjögren-Larsson syndrome

Acta dermato-venereologica, 1999, Vol.79 (1), p.41-43

1999

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Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304)

American journal of human genetics, 1989-08, Vol.45 (2), p.304-309

1989

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Achondroplasia in Sweden caused by the G1138A mutation in FGFR3

Acta pædiatrica (Oslo), 1996-12, Vol.85 (12), p.1506-1507

1996

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Autosomal dominant cerebellar ataxia deafness and narcolepsy

Journal of the neurological sciences, 1995-12, Vol.134 (1), p.119-129

1995

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Fragile X syndrome in mildly mentally retarded children in a Northern Swedish county. A prevalence study

Clinical genetics, 1983-12, Vol.24 (6), p.393-398

1983

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Isolation of a DNA probe of potential use for diagnosis of the fragile-x syndrome

Human genetics, 1989-06, Vol.82 (3), p.216-218

1989

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Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene

Journal of medical genetics, 1993-02, Vol.30 (2), p.104-107

1993

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Hereditary spastic diplegia with mental retardation in two young siblings

Clinical genetics, 1989-12, Vol.36 (6), p.439-441

1989

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Frequency of the fragile X syndrome in infantile autism. A swedish multicenter study

Clinical genetics, 1985-01, Vol.27 (2), p.113-117

1985

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Increased Plasma and Erythrocyte Selenium Concentrations but Decreased Erythrocyte Glutathione Peroxidase Activity after Selenium Supplementation in Children with Down Syndrome

Acta Paediatrica, 1989-11, Vol.78 (6), p.879-884

1989

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X-linked myotubular myopathy: a linkage study

Clinical genetics, 1990-05, Vol.37 (5), p.335-340

1990

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Low Concentrations of Sodium and Magnesium in Erythrocytes from Cystic Fibrosis Heterozygotes

Acta Paediatrica, 1991-01, Vol.80 (1), p.57-61

1991

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A follow-up study of mortality, health conditions and associated disabilities of people with intellectual disabilities in a Swedish county

Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

Re-evaluation of the dysequilibrium syndrome

Mild intellectual disability in children in Lahore, Pakistan: Aetiology and risk factors

Prevalence of beta-thalassaemia and sickle cell traits in premarital screening in Al-Qassim, Saudi Arabia

Prevalence and associated impairments of mild mental retardation in six- to ten-year old children in Pakistan: a prospective study

Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium

Severe mental retardation in 2 to 24-month-old children in Lahore, Pakistan: a prospective cohort study

The gene for Best's macular dystrophy is located at 11q13 in a Swedish family

The Sjögren-Larsson Syndrome gene is close to D17S805 as determined by linkage analysis and allelic association

Risk factors for mortality in young children living under various socio-economic conditions in Lahore, Pakistan: with particular reference to inbreeding

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene

Linkage mapping of a severe X-linked mental retardation syndrome

Further evidence of genetic homogeneity in Sjögren-Larsson syndrome

Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304)

Achondroplasia in Sweden caused by the G1138A mutation in FGFR3

Autosomal dominant cerebellar ataxia deafness and narcolepsy

Fragile X syndrome in mildly mentally retarded children in a Northern Swedish county. A prevalence study

Isolation of a DNA probe of potential use for diagnosis of the fragile-x syndrome

Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene

Hereditary spastic diplegia with mental retardation in two young siblings

Frequency of the fragile X syndrome in infantile autism. A swedish multicenter study

Increased Plasma and Erythrocyte Selenium Concentrations but Decreased Erythrocyte Glutathione Peroxidase Activity after Selenium Supplementation in Children with Down Syndrome

X-linked myotubular myopathy: a linkage study

Low Concentrations of Sodium and Magnesium in Erythrocytes from Cystic Fibrosis Heterozygotes

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