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A novel X-linked gene, G4.5 . is responsible for Barth syndrome

Nature genetics, 1996-04, Vol.12 (4), p.385-389

1996

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Mutations in GDI1 are responsible for X-linked non-specific mental retardation

Nature genetics, 1998-06, Vol.19 (2), p.134-139

1998

Volltextzugriff (PDF)

Identification of the gene FMR2 , associated with FRAXE mental retardation

Nature genetics, 1996-05, Vol.13 (1), p.105-108

1996

Volltextzugriff (PDF)

X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3

American journal of medical genetics. Part A, 2003-08, Vol.120A (4), p.509-517

2003

Volltextzugriff (PDF)

Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome

Journal of lipid research, 2006-10, Vol.47 (10), p.2346-2351

2006

Volltextzugriff (PDF)

Gene Structure and Expression Study of the SEDL Gene for Spondyloepiphyseal Dysplasia Tarda

Genomics (San Diego, Calif.), 2000-10, Vol.69 (2), p.242-251

2000

Volltextzugriff (PDF)

A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda

American journal of human genetics, 2001-06, Vol.68 (6), p.1398-1407

2001

Volltextzugriff (PDF)

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Nature genetics, 2002-04, Vol.30 (4), p.441-445

2002

Volltextzugriff (PDF)

Mutations in PHF6 are associated with Börjeson-Forssman -Lehmann syndrome

Nature genetics, 2002-12, Vol.32 (4), p.661-665

2002

Volltextzugriff (PDF)

X Chromosome Inactivation in Carriers of Barth Syndrome

American journal of human genetics, 1998-11, Vol.63 (5), p.1457-1463

1998

Volltextzugriff (PDF)

Identification of the gene ( SEDL ) causing X-linked spondyloepiphyseal dysplasia tarda

Nature genetics, 1999-08, Vol.22 (4), p.400-404

1999

Volltextzugriff (PDF)

The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

American journal of human genetics, 1997-10, Vol.61 (4), p.862-867

1997

Volltextzugriff (PDF)

Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22

American journal of medical genetics. Part A, 2003-03, Vol.117A (3), p.245-250

2003

Volltextzugriff (PDF)

Mutations in PHF6 are associated with Boerjeson-Forssman-Lehmann syndrome

Nature genetics, 2002-12, Vol.32 (4), p.661-665

2002

Volltextzugriff (PDF)

Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence

The New England journal of medicine, 1991-12, Vol.325 (24), p.1720-1722

1991

Volltextzugriff (PDF)

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

The Lancet (British edition), 1993-01, Vol.341 (8839), p.236-237

1993

Volltextzugriff (PDF)

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

Nature genetics, 1998-07, Vol.19 (3), p.303-303

1998

Volltextzugriff (PDF)

Correction: Mutations in GDI1 are responsible for X-linked non-specific mental retardation

Nature genetics, 1998-07, Vol.19 (3), p.303-303

1998

Volltextzugriff (PDF)

New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255

American journal of medical genetics, 1991-09, Vol.40 (4), p.406-413

1991

Volltextzugriff (PDF)

Brief Report: Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence

The New England journal of medicine, 1991-12, Vol.325 (24), p.1720

1991

Volltextzugriff (PDF)

Predictive diagnosis for polycystic kidney disease using DNA markers

Medical journal of Australia, 1990-03, Vol.152 (6), p.287-289

1990

Volltextzugriff (PDF)

Letter to the editor: Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)

American journal of medical genetics, 1996-07, Vol.64 (1), p.78-79

1996

Volltextzugriff (PDF)

Letter to the editor: Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)

American journal of medical genetics, 1996-07, Vol.64 (1), p.80-81

1996

Volltextzugriff (PDF)

Presymptomatic testing for myotonic dystrophy by means of the linked DNA marker APOC2

Medical journal of Australia, 1988-09, Vol.149 (6), p.326-329

1988

Volltextzugriff (PDF)

X-linked mental retardation with dystonic movements of the hands (PRTS): Revisited

American journal of medical genetics, 1994-07, Vol.51 (4), p.565-568

1994

Volltextzugriff (PDF)

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A novel X-linked gene, G4.5 . is responsible for Barth syndrome

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

Identification of the gene FMR2 , associated with FRAXE mental retardation

X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3

Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome

Gene Structure and Expression Study of the SEDL Gene for Spondyloepiphyseal Dysplasia Tarda

A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Mutations in PHF6 are associated with Börjeson-Forssman -Lehmann syndrome

X Chromosome Inactivation in Carriers of Barth Syndrome

Identification of the gene ( SEDL ) causing X-linked spondyloepiphyseal dysplasia tarda

The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22

Mutations in PHF6 are associated with Boerjeson-Forssman-Lehmann syndrome

Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

Correction: Mutations in GDI1 are responsible for X-linked non-specific mental retardation

New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255

Brief Report: Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence

Predictive diagnosis for polycystic kidney disease using DNA markers

Letter to the editor: Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)

Letter to the editor: Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)

Presymptomatic testing for myotonic dystrophy by means of the linked DNA marker APOC2

X-linked mental retardation with dystonic movements of the hands (PRTS): Revisited

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