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The early-onset torsion dystonia gene ( DYT1 ) encodes an ATP-binding protein

Nature genetics, 1997-09, Vol.17 (1), p.40-48

1997

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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Nature genetics, 2008-06, Vol.40 (6), p.776-781

2008

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Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

Nature genetics, 1993-08, Vol.4 (4), p.393-397

1993

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The gene for achondroplasia maps to the telomeric region of chromosome 4p

Nature genetics, 1994-03, Vol.6 (3), p.314-317

1994

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A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene

Nature genetics, 1993-06, Vol.4 (2), p.181-186

1993

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Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types

Nature genetics, 1994-02, Vol.6 (2), p.185-192

1994

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Nature genetics, 2017-01, Vol.49 (1), p.36-45

2017

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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Nature genetics, 2017-02, Vol.49 (2), p.238-248

2017

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Neurofibromatosis type 1 gene mutations in neuroblastoma

Nature genetics, 1993-01, Vol.3 (1), p.62-66

1993

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Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis

Nature genetics, 1993-06, Vol.4 (2), p.160-164

1993

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Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

Nature genetics, 1992-10, Vol.2 (2), p.148-152

1992

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The Huntington's disease candidate region exhibits many different haplotypes

Nature genetics, 1992-05, Vol.1 (2), p.99-103

1992

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Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion

Nature genetics, 1997-12, Vol.17 (4), p.404-410

1997

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Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Nature genetics, 2017-06, Vol.49 (6), p.969-969

2017

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Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Nature genetics, 2017-05, Vol.49 (6), p.969-969

2017

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Discrepancy resolved

Nature genetics, 1993-11, Vol.5 (3), p.215-215

1993

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Complex reorganization and predominant non- homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

The early-onset torsion dystonia gene ( DYT1 ) encodes an ATP-binding protein

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

The gene for achondroplasia maps to the telomeric region of chromosome 4p

A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Neurofibromatosis type 1 gene mutations in neuroblastoma

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

The Huntington's disease candidate region exhibits many different haplotypes

Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Discrepancy resolved

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