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Neural Basis of an Inherited Speech and Language Disorder

Proceedings of the National Academy of Sciences - PNAS, 1998-10, Vol.95 (21), p.12695-12700

1998

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Localisation of a gene implicated in a severe speech and language disorder

Nature genetics, 1998-02, Vol.18 (2), p.168-170

1998

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Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation

Cell, 1993-07, Vol.74 (1), p.127-134

1993

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Radiological malformations of the ear in pendred syndrome

Clinical radiology, 1998-04, Vol.53 (4), p.268-273

1998

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Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

The Lancet (British edition), 1992-12, Vol.340 (8832), p.1376-1379

1992

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A clinical and genetic study of campomelic dysplasia

Journal of medical genetics, 1995-06, Vol.32 (6), p.415-420

1995

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Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4

Science (American Association for the Advancement of Science), 1995-02, Vol.267 (5198), p.685-688

1995

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Uniparental paternal disomy in Angelman's syndrome

The Lancet (British edition), 1991-03, Vol.337 (8743), p.694-697

1991

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Angelman syndrome

Journal of medical genetics, 1992-06, Vol.29 (6), p.412-415

1992

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Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

Human genetics, 2000-11, Vol.107 (5), p.499-503

2000

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An assessment of screening strategies for fragile X syndrome in the UK

Health technology assessment (Winchester, England), 2001, Vol.5 (7), p.1-95

2001

Volltextzugriff (PDF)

Association of the INS VNTR with size at birth

Nature genetics, 1998-05, Vol.19 (1), p.98-100

1998

Volltextzugriff (PDF)

In the light of preimplantation genetic diagnosis: some ethical issues in medical genetics revisited

European journal of human genetics : EJHG, 1998-01, Vol.6 (1), p.4-11

Pembrey, M E

1998

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Molecular mechanisms in Angelman syndrome: a survey of 93 patients

Journal of medical genetics, 1993-11, Vol.30 (11), p.895-902

1993

Volltextzugriff (PDF)

Mapping of DFN2 to Xq22

Human molecular genetics, 1996-12, Vol.5 (12), p.2055-2060

1996

Volltextzugriff (PDF)

Sex-specific, male-line transgenerational responses in humans

European journal of human genetics : EJHG, 2006-02, Vol.14 (2), p.159-166

2006

Volltextzugriff (PDF)

Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage

Journal of medical genetics, 1997-02, Vol.34 (2), p.126-129

1997

Volltextzugriff (PDF)

Sex-specific, male-line transgenerational responses in humans

European journal of human genetics : EJHG, 2006-02, Vol.14 (2), p.159-166

2006

Volltextzugriff (PDF)

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome

Journal of medical genetics, 1993-06, Vol.30 (6), p.529-531

1993

Volltextzugriff (PDF)

Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families

Journal of medical genetics, 1997-08, Vol.34 (8), p.651-655

1997

Volltextzugriff (PDF)

A multipedigree linkage study of X-linked deafness: Linkage to Xq13-q21 and evidence for genetic heterogeneity

Genomics (San Diego, Calif.), 1991-12, Vol.11 (4), p.885-894

1991

Volltextzugriff (PDF)

Localization of a Type 1 Diabetes Locus in the IL2RA/CD25 Region by Use of Tag Single-Nucleotide Polymorphisms

American journal of human genetics, 2005-05, Vol.76 (5), p.773-779

2005

Volltextzugriff (PDF)

Microdeletions in patients with Gusher-associated, X-linked mixed deafness (DFN3)

American journal of human genetics, 1992-07, Vol.51 (1), p.38-44

1992

Volltextzugriff (PDF)

Abnormal Audiograms and Elevated Acoustic Reflex Thresholds in Obligate Carriers of Autosomal Recessive Non-Syndromic Hearing Loss

Acta oto-laryngologica, 1997, Vol.117 (3), p.337-342

1997

Volltextzugriff (PDF)

Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome

Human genetics, 1992-02, Vol.88 (4), p.376-378

1992

Volltextzugriff (PDF)

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Neural Basis of an Inherited Speech and Language Disorder

Localisation of a gene implicated in a severe speech and language disorder

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation

Radiological malformations of the ear in pendred syndrome

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

A clinical and genetic study of campomelic dysplasia

Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4

Uniparental paternal disomy in Angelman's syndrome

Angelman syndrome

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

An assessment of screening strategies for fragile X syndrome in the UK

Association of the INS VNTR with size at birth

In the light of preimplantation genetic diagnosis: some ethical issues in medical genetics revisited

Molecular mechanisms in Angelman syndrome: a survey of 93 patients

Mapping of DFN2 to Xq22

Sex-specific, male-line transgenerational responses in humans

Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage

Sex-specific, male-line transgenerational responses in humans

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome

Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families

A multipedigree linkage study of X-linked deafness: Linkage to Xq13-q21 and evidence for genetic heterogeneity

Localization of a Type 1 Diabetes Locus in the IL2RA/CD25 Region by Use of Tag Single-Nucleotide Polymorphisms

Microdeletions in patients with Gusher-associated, X-linked mixed deafness (DFN3)

Abnormal Audiograms and Elevated Acoustic Reflex Thresholds in Obligate Carriers of Autosomal Recessive Non-Syndromic Hearing Loss

Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome

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