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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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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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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 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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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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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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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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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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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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Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers–Danlos syndrome type IV

Human molecular genetics, 1994-03, Vol.3 (3), p.511-512

1994

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Chromosomal breakage in multiple endocrine adenomatosis (types I and II)

Clinical genetics, 1983-02, Vol.23 (2), p.143-149

1983

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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

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

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

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

Linkage mapping of a severe X-linked mental retardation syndrome

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

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

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

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

Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers–Danlos syndrome type IV

Chromosomal breakage in multiple endocrine adenomatosis (types I and II)

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