Nature Search

Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA

Annemieke de Vries
Conny Th. M. van Oostrom
Sjef J. Verbeek
Research14 Sept 1995
Nature

Volume: 377, P: 169-173
Bismuth in interplanetary dust

Ian D. R. Mackinnon
Frans J. M. Rietmeijer
Research13 Sept 1984
Nature

Volume: 311, P: 135-138
Cerebral visual impairment and intellectual disability caused by PGAP1 variants

Daniëlle G M Bosch
F Nienke Boonstra
Bert B A de Vries
Research25 Mar 2015
European Journal of Human Genetics

Volume: 23, P: 1689-1693
Genome sequencing and analysis of the versatile cell factory Aspergillus niger CBS 513.88

Herman J Pel
Johannes H de Winde
Hein Stam
ResearchOpen Access28 Jan 2007
Nature Biotechnology

Volume: 25, P: 221-231
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Chun-An Chen
Daniëlle G. M. Bosch
Christian Schaaf
Research17 Mar 2016
Genetics in Medicine

Volume: 18, P: 1143-1150
No growth stimulation of tropical trees by 150 years of CO₂ fertilization but water-use efficiency increased

Increasing CO₂ concentrations are expected to increase plant growth and water efficiency. Tree-ring data covering 150 years from tropical forests show that water-use efficiency has increased with CO₂ concentrations but tree growth has not.

Peter van der Sleen
Peter Groenendijk
Pieter A. Zuidema
Research15 Dec 2014
Nature Geoscience

Volume: 8, P: 24-28
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Frans W. Verheijen
Elly Verbeek
Grazia M.S. Mancini
Research01 Dec 1999
Nature Genetics

Volume: 23, P: 462-465
Cooperative agreement between countries of the North Atlantic Ocean reduces marine plastic pollution but with unequal economic benefits

Failure of countries to develop cooperative solutions through international agreements increases marine plastic pollution in the North Atlantic Ocean, leading to a significant loss of aggregate economic benefits, according to a game-theoretic integrated assessment model.

Nicola J. Beaumont
Tobias Börger
Frans P. de Vries
ResearchOpen Access22 Feb 2025
Communications Earth & Environment

Volume: 6, P: 1-11
Meta-analysis of genome-wide association for migraine in six population-based European cohorts

Lannie Ligthart
Boukje de Vries
Dorret I Boomsma
ResearchOpen Access30 Mar 2011
European Journal of Human Genetics

Volume: 19, P: 901-907
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens
Alejandro Garanto
Elfride De Baere
ResearchOpen Access23 Jan 2019
Genetics in Medicine

Volume: 21, P: 1761-1771
Author Correction: Insights from international environmental legislation and protocols for the global plastic treaty

Margrethe Aanesen
Julide C. Ahi
Nicola J. Beaumont
Amendments and CorrectionsOpen Access25 Mar 2024
Scientific Reports

Volume: 14, P: 1
Insights from international environmental legislation and protocols for the global plastic treaty

Margrethe Aanesen
Julide C. Ahi
Nicola J. Beaumont
ResearchOpen Access02 Feb 2024
Scientific Reports

Volume: 14, P: 1-12
COL4A2 mutation associated with familial porencephaly and small-vessel disease

Elly Verbeek
Marije EC Meuwissen
Grazia MS Mancini
Research15 Feb 2012
European Journal of Human Genetics

Volume: 20, P: 844-851
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants

Gaby Schobers
Maartje Pennings
Lisenka E. L. M. Vissers
Research27 Sept 2024
European Journal of Human Genetics

Volume: 33, P: 56-64
Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Chun-An Chen
Daniëlle G M Bosch
Christian Schaaf
Amendments and Corrections04 Aug 2017
Genetics in Medicine

Volume: 19, P: 962
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Ineke Labrijn-Marks
Galhana M. Somers-Bolman
Dicky J. Halley
ResearchOpen Access08 Feb 2019
European Journal of Human Genetics

Volume: 27, P: 919-927
Decision making on HSCT in patients with hemoglobinopathies; an EBMT Pediatric Diseases Working Party and Inborn Errors Working Party scenario-based survey on physicians’ perspectives

Hilda Mekelenkamp
Martine de Vries
Frans Smiers
Correspondence26 Jan 2023
Bone Marrow Transplantation

Volume: 58, P: 584-586

Search

Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA

Bismuth in interplanetary dust

Cerebral visual impairment and intellectual disability caused by PGAP1 variants

Genome sequencing and analysis of the versatile cell factory Aspergillus niger CBS 513.88

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

No growth stimulation of tropical trees by 150 years of CO₂ fertilization but water-use efficiency increased

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Cooperative agreement between countries of the North Atlantic Ocean reduces marine plastic pollution but with unequal economic benefits

Meta-analysis of genome-wide association for migraine in six population-based European cohorts

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Author Correction: Insights from international environmental legislation and protocols for the global plastic treaty

Insights from international environmental legislation and protocols for the global plastic treaty

COL4A2 mutation associated with familial porencephaly and small-vessel disease

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants

Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Decision making on HSCT in patients with hemoglobinopathies; an EBMT Pediatric Diseases Working Party and Inborn Errors Working Party scenario-based survey on physicians’ perspectives

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