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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Nature genetics, 2014-05, Vol.46 (5), p.503-509

2014

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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Nature genetics, 2012-03, Vol.44 (3), p.338-342

2012

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B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

The Journal of clinical investigation, 2015-08, Vol.125 (8), p.3051-3062

2015

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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Nature genetics, 2006-08, Vol.38 (8), p.910-916

2006

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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Circulation. Cardiovascular genetics, 2015-08, Vol.8 (4), p.572

2015

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Mosaic structural variation in children with developmental disorders

Human molecular genetics, 2015-05, Vol.24 (10), p.2733-2745

2015

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The movement disorders of Coffin–Lowry syndrome

Brain & development (Tokyo. 1979), 2005-03, Vol.27 (2), p.108-113

2005

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Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism

Brain & development (Tokyo. 1979), 2005-03, Vol.27 (2), p.118-124

2005

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Mutations in the general transcription factor TFIIH result in β-thalassaemia in individuals with trichothiodystrophy

Human molecular genetics, 2001-11, Vol.10 (24), p.2797-2802

2001

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An autosomal recessive adducted thumb‐club foot syndrome observed in Turkish cousins

Clinical genetics, 1997-01, Vol.51 (1), p.61-64

1997

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Nature genetics, 2009-05, Vol.41 (5), p.535-543

2009

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Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay

Clinical chemistry (Baltimore, Md.), 2005-12, Vol.51 (12), p.2356-2358

2005

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A novel acropectoral syndrome maps to chromosome 7q36

Journal of medical genetics, 2001-05, Vol.38 (5), p.304-309

2001

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B56[delta]-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

The Journal of clinical investigation, 2015-08, Vol.125 (8), p.3051

2015

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Aubrey Milunsky (Ed): Genetic disorders and the fetus. Diagnosis, prevention and treatment (fifth edition). The Johns Hopkins University Press (2004), ISBN 0-8018-7928-0, hardcover, 160.50

Human genetics, 2005-03, Vol.116 (4), p.329-330

Tolmie, John L

2005

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Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light

Cancer research (Chicago, Ill.), 1988-11, Vol.48 (21), p.6090-6096

1988

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A novel pattern of oculocerebral malformation

British journal of ophthalmology, 1997-06, Vol.81 (6), p.470-475

1997

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The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency

American journal of human genetics, 1999-08, Vol.65 (2), p.318-326

1999

Volltextzugriff (PDF)

Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment. Fourth Edition, 1998

Human genetics, 1999-05, Vol.104 (4), p.356-356

Tolmie, John L.

1999

Volltextzugriff (PDF)

Identification of novel mutations in patients with cof fin-lowry syndrome by a denaturing HPLC-based assay

Clinical chemistry (Baltimore, Md.), 2005, Vol.51 (12), p.2356-2358

2005

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Mutations in the general transcription factor TFIIH result in [beta]-thalassaemia in individuals with trichothiodystrophy

Human molecular genetics, 2001-11, Vol.10 (24), p.2797

2001

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Second trimester prenatal diagnosis of the Jarcho-Levin syndrome

Prenatal diagnosis, 1987-02, Vol.7 (2), p.129-134

1987

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Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry

Human genetics, 1989-08, Vol.83 (1), p.83-87

1989

Volltextzugriff (PDF)

Aubrey Milunsky

Human Genetics, 2005, Vol.116 (4), p.329

Tolmie, John L

2005

Volltextzugriff (PDF)

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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Mosaic structural variation in children with developmental disorders

The movement disorders of Coffin–Lowry syndrome

Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism

Mutations in the general transcription factor TFIIH result in β-thalassaemia in individuals with trichothiodystrophy

An autosomal recessive adducted thumb‐club foot syndrome observed in Turkish cousins

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay

A novel acropectoral syndrome maps to chromosome 7q36

B56[delta]-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Aubrey Milunsky (Ed): Genetic disorders and the fetus. Diagnosis, prevention and treatment (fifth edition). The Johns Hopkins University Press (2004), ISBN 0-8018-7928-0, hardcover, 160.50

Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light

A novel pattern of oculocerebral malformation

The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency

Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment. Fourth Edition, 1998

Identification of novel mutations in patients with cof fin-lowry syndrome by a denaturing HPLC-based assay

Mutations in the general transcription factor TFIIH result in [beta]-thalassaemia in individuals with trichothiodystrophy

Second trimester prenatal diagnosis of the Jarcho-Levin syndrome

Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry

Aubrey Milunsky

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