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Alternating hemiplegia of childhood in Denmark: Clinical manifestations and ATP1A3 mutation status

European journal of paediatric neurology, 2014-01, Vol.18 (1), p.50-54

2014

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The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys

Molecular syndromology, 2015-10, Vol.6 (4), p.181-186

2015

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Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You‐Hoover‐Fong syndrome

Molecular genetics & genomic medicine, 2017-09, Vol.5 (5), p.580-584

2017

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Novel compound heterozygous mutations in TELO 2 in a patient with severe expression of You‐Hoover‐Fong syndrome

Molecular genetics & genomic medicine, 2017-09, Vol.5 (5), p.580-584

2017

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Pallister–Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.510-514

2009

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The PHF6 Mutation c.1A>G; pM1V Causes Brjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys

Molecular syndromology, 2015-10, Vol.6 (4), p.181-186

2015

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Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia

Human genetics, 2001-07, Vol.109 (1), p.11-18

2001

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Tetrasomy 18p de novo: parental origin and different mechanisms of formation

European journal of human genetics : EJHG, 1996, Vol.4 (3), p.160-167

1996

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Early diagnosis of Mb. Recklinghausen

Clinical genetics, 1986-05, Vol.29 (5), p.465-466

1986

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A neuropsychological study of children with elevated dentine lead level: Assessment of the effect of lead in different socio-economic groups

Neurotoxicology and teratology, 1989-05, Vol.11 (3), p.205-213

1989

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Learning Disabilities in Children: Significance of Low-Level Lead-Exposure and Confounding Factors

Acta Paediatrica, 1990-03, Vol.79 (3), p.352-360

1990

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Lessons from a Danish Study on Neuropsychological Impairment Related to Lead Exposure

Environmental health perspectives, 1991-08, Vol.94, p.111-115

1991

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Early lead exposure and neonatal jaundice: Relation to neurobehavioral performance at 15 years of age

Neurotoxicology and teratology, 1993-05, Vol.15 (3), p.173-181

1993

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The most profoundly retarded children in the county of Aarhus II. Etiologic and pathogenetic aspects

Clinical genetics, 1986-05, Vol.29 (5), p.466-466

1986

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Predictors of tooth-lead level with special reference to traffic : a study of lead-exposure in children

International archives of occupational and environmental health, 1990-01, Vol.62 (6), p.417-422

1990

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Neurological deficits in children: Medical risk factors and lead exposure

Neurotoxicology and teratology, 1988-11, Vol.10 (6), p.531-537

1988

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Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p

American Journal of Medical Genetics Part A, 2009, Vol.149A (3), p.510-514

2009

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Bias from Non-participation: A Study of Low-level Lead Exposure in Children

Scandinavian journal of social medicine, 1988-01, Vol.16 (4), p.209-215

1988

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Lead as a Cause of SIDS

The New England journal of medicine, 1985-10, Vol.313 (15), p.954-955

1985

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Antenatal sonographic diagnoses of giant cystic hygroma of the neck: A problem for the clinician

Acta obstetricia et gynecologica Scandinavica, 1986, Vol.65 (8), p.873-875

1986

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Lead concentration in deciduous teeth: Variation related to tooth type and analytical technique

Journal of toxicology and environmental health, 1986-01, Vol.19 (3), p.437-444

1986

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Alpers' disease

Clinical genetics, 1984-09, Vol.26 (3), p.256-258

1984

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A girl with karyotype 46,XX,del(7) (qter?p15:)

Human genetics, 1975-06, Vol.26 (2)

1975

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Antenatal sonographic diagnoses of giant cystic hygroma of the neck: A problem for the clinician

Acta Obstetricia et Gynecologica Scandinavica, 1986, Vol.65 (8), p.873-875

1986

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Alternating hemiplegia of childhood in Denmark: Clinical manifestations and ATP1A3 mutation status

Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You‐Hoover‐Fong syndrome

Novel compound heterozygous mutations in TELO 2 in a patient with severe expression of You‐Hoover‐Fong syndrome

Pallister–Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p

The PHF6 Mutation c.1A>G; pM1V Causes Brjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys

Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia

Tetrasomy 18p de novo: parental origin and different mechanisms of formation

Early diagnosis of Mb. Recklinghausen

A neuropsychological study of children with elevated dentine lead level: Assessment of the effect of lead in different socio-economic groups

Learning Disabilities in Children: Significance of Low-Level Lead-Exposure and Confounding Factors

Lessons from a Danish Study on Neuropsychological Impairment Related to Lead Exposure

Early lead exposure and neonatal jaundice: Relation to neurobehavioral performance at 15 years of age

The most profoundly retarded children in the county of Aarhus II. Etiologic and pathogenetic aspects

Predictors of tooth-lead level with special reference to traffic : a study of lead-exposure in children

Neurological deficits in children: Medical risk factors and lead exposure

Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p

Bias from Non-participation: A Study of Low-level Lead Exposure in Children

Lead as a Cause of SIDS

Antenatal sonographic diagnoses of giant cystic hygroma of the neck: A problem for the clinician

Lead concentration in deciduous teeth: Variation related to tooth type and analytical technique

Alpers' disease

A girl with karyotype 46,XX,del(7) (qter?p15:)

Antenatal sonographic diagnoses of giant cystic hygroma of the neck: A problem for the clinician

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