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Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

Nature (London), 1990-01, Vol.343 (6254), p.180-182

1990

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Genomic organization of alpha satellite DNA on human chromosome 7: evidence for two distinct alphoid domains on a single chromosome

Molecular and Cellular Biology, 1987-01, Vol.7 (1), p.349-356

1987

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Detection of Restriction Fragment Length Polymorphisms at the Centromeres of Human Chromosomes by Using Chromosome-Specific α Satellite DNA Probes: Implications for Development of Centromere-Based Genetic Linkage Maps

Proceedings of the National Academy of Sciences - PNAS, 1986-08, Vol.83 (15), p.5611-5615

1986

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Chromosome-specific alpha satellite DNA from the centromere of human chromosome 16

American journal of human genetics, 1989-12, Vol.45 (6), p.862-872

1989

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Sequences of junction fragments in the deletion-prone region of the dystrophin gene

Genomics (San Diego, Calif.), 1991-05, Vol.10 (1), p.57-67

1991

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Localization of 24 cosmid clones on the human Y chromosome

Journal of human genetics, 1992-12, Vol.37 (4), p.307-310

1992

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Molecular analysis of muscular dystrophy

Journal of muscle research and cell motility, 1988-02, Vol.9 (1), p.1-8

1988

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New technologies needed

Nature (London), 1991-08, Vol.352 (6338), p.752-752

1991

Volltextzugriff (PDF)

Molecular analysis of muscular dystrophy

Journal of muscle research and cell motility, 1988, Vol.9 (2), p.1-8

1988

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ZB 2000: Formal Specification and Development in Z and B: First International Conference of B and Z Users York, UK, August 29 – September 2, 2000 Proceedings

2000

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Demonstration of electron acceleration in a laser―driven dielectric microstructure

Nature (London), 2013-11, Vol.503 (7474), p.91-94

2013

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ZB 2005: Formal Specification and Development in Z and B: 4th International Conference of B and Z Users, Guildford, UK, April 13-15, 2005, Proceedings

2005., 2005

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Clinical features and management of human monkeypox: a retrospective observational study in the UK

The Lancet infectious diseases, 2022-08, Vol.22 (8), p.1153-1162

2022

Volltextzugriff (PDF)

NanoLuc: A Small Luciferase Is Brightening Up the Field of Bioluminescence

Bioconjugate chemistry, 2016-05, Vol.27 (5), p.1175-1187

2016

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Control of equatorial ionospheric morphology by atmospheric tides

Geophysical research letters, 2006-08, Vol.33 (15), p.L15108-n/a

2006

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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

American journal of human genetics, 2023-03, Vol.110 (3), p.548-548

2023

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Risk factors and consequences of persistent type II endoleaks

Journal of vascular surgery, 2016-04, Vol.63 (4), p.895-901

2016

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High-efficiency acceleration of an electron beam in a plasma wakefield accelerator

Nature (London), 2014-11, Vol.515 (7525), p.92-95

2014

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Color from hierarchy: Diverse optical properties of micron-sized spherical colloidal assemblies

Proceedings of the National Academy of Sciences - PNAS, 2015-09, Vol.112 (35), p.10845-10850

2015

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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Nature communications, 2023-07, Vol.14 (1), p.4109-4109, Article 4109

2023

Volltextzugriff (PDF)

Substitution mutational signatures in whole-genome-sequenced cancers in the UK population

Science (American Association for the Advancement of Science), 2022-04, Vol.376 (6591)

2022

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Coupling of Indo-Pacific climate variability over the last millennium

Nature (London), 2020-03, Vol.579 (7799), p.385-392

2020

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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

American journal of human genetics, 2023-01, Vol.110 (1), p.120-145

2023

Volltextzugriff (PDF)

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Brain (London, England : 1878), 2023-04, Vol.146 (4), p.1357-1372

2023

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Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

Genomic organization of alpha satellite DNA on human chromosome 7: evidence for two distinct alphoid domains on a single chromosome

Detection of Restriction Fragment Length Polymorphisms at the Centromeres of Human Chromosomes by Using Chromosome-Specific α Satellite DNA Probes: Implications for Development of Centromere-Based Genetic Linkage Maps

Chromosome-specific alpha satellite DNA from the centromere of human chromosome 16

Sequences of junction fragments in the deletion-prone region of the dystrophin gene

Localization of 24 cosmid clones on the human Y chromosome

Molecular analysis of muscular dystrophy

New technologies needed

Molecular analysis of muscular dystrophy

ZB 2000: Formal Specification and Development in Z and B: First International Conference of B and Z Users York, UK, August 29 – September 2, 2000 Proceedings

Demonstration of electron acceleration in a laser―driven dielectric microstructure

ZB 2005: Formal Specification and Development in Z and B: 4th International Conference of B and Z Users, Guildford, UK, April 13-15, 2005, Proceedings

Clinical features and management of human monkeypox: a retrospective observational study in the UK

NanoLuc: A Small Luciferase Is Brightening Up the Field of Bioluminescence

Control of equatorial ionospheric morphology by atmospheric tides

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

Risk factors and consequences of persistent type II endoleaks

High-efficiency acceleration of an electron beam in a plasma wakefield accelerator

Color from hierarchy: Diverse optical properties of micron-sized spherical colloidal assemblies

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Substitution mutational signatures in whole-genome-sequenced cancers in the UK population

Coupling of Indo-Pacific climate variability over the last millennium

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases

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