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An SCN9A channelopathy causes congenital inability to experience pain

Nature, 2006-12, Vol.444 (7121), p.894-898

2006

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Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

Nature genetics, 2001-08, Vol.28 (4), p.350-354

2001

Volltextzugriff (PDF)

Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

American journal of human genetics, 1998-08, Vol.63 (2), p.541-546

1998

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The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2

European journal of human genetics : EJHG, 1999-10, Vol.7 (7), p.815-820

1999

Volltextzugriff (PDF)

Pain perception is altered by a nucleotide polymorphism in SCN9A

Proceedings of the National Academy of Sciences - PNAS, 2010-03, Vol.107 (11), p.5148-5153

2010

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A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25

American journal of human genetics, 1999-02, Vol.64 (2), p.526-532

1999

Volltextzugriff (PDF)

Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness

American journal of human genetics, 1998-05, Vol.62 (5), p.1123-1128

1998

Volltextzugriff (PDF)

Increased “absence” of telomeres may indicate Alzheimer's disease/dementia status in older individuals with Down syndrome

Neuroscience letters, 2008-08, Vol.440 (3), p.340-343

2008

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Methods in Multi-site Trials of Family-based Interventions

Emerging Methods in Family Research, p.245-260

Volltextzugriff (PDF)

Pharmacogenetics: Development Issues and Solutions for Safe and Effective Medicines

Pharmacogenomics, 2006-03, Vol.7 (2), p.149

2006

Volltextzugriff (PDF)

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An SCN9A channelopathy causes congenital inability to experience pain

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2

Pain perception is altered by a nucleotide polymorphism in SCN9A

A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25

Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness

Increased “absence” of telomeres may indicate Alzheimer's disease/dementia status in older individuals with Down syndrome

Methods in Multi-site Trials of Family-based Interventions

Pharmacogenetics: Development Issues and Solutions for Safe and Effective Medicines

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