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Nomenclature for the description of human sequence variations

Human genetics, 2001-07, Vol.109 (1), p.121-124

2001

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Accessing the Transverse Dynamics and Polarization of Gluons inside the Proton at the LHC

Physical review letters, 2014-05, Vol.112 (21), Article 212001

2014

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Collembolan Transcriptomes Highlight Molecular Evolution of Hexapods and Provide Clues on the Adaptation to Terrestrial Life

PloS one, 2015-06, Vol.10 (6), p.e0130600-e0130600

2015

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A full-body transcriptome and proteome resource for the European common carp

BMC genomics, 2016-09, Vol.17 (1), p.701-701, Article 701

2016

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Next generation sequencing technology: Advances and applications

Biochimica et biophysica acta. Molecular basis of disease, 2014-10, Vol.1842 (10), p.1932-1941

2014

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Linearly polarized gluons and the Higgs transverse momentum distribution

Physical review letters, 2012-01, Vol.108 (3), p.032002-032002, Article 032002

2012

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Relative power and sample size analysis on gene expression profiling data

BMC genomics, 2009-09, Vol.10 (1), p.439-439, Article 439

2009

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FcγRIII stimulation breaks the tolerance of human nasal epithelial cells to bacteria through cross-talk with TLR4

Mucosal immunology, 2019-03, Vol.12 (2), p.425-433

2019

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Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

Clinical genetics, 2009-05, Vol.75 (5), p.465-472

2009

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Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells

Gene therapy, 2004-09, Vol.11 (18), p.1391-1398

2004

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Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

Journal of medical genetics, 2005-12, Vol.42 (12), p.922-931

2005

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Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling

BMC genomics, 2005-07, Vol.6 (1), p.98-98, Article 98

2005

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Common pathological mechanisms in mouse models for muscular dystrophies

The FASEB journal, 2006-01, Vol.20 (1), p.127-129

2006

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TMD evolution and the Higgs transverse momentum distribution

Nuclear physics. B, 2014-09, Vol.886 (C), p.421-435

2014

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WHSC1, a 90 kb SET Domain-Containing Gene, Expressed in Early Development and Homologous to a Drosophila Dysmorphy Gene Maps in the Wolf-Hirschhorn Syndrome Critical Region and is Fused to IgH in t(1;14) Multiple Myeloma

Human molecular genetics, 1998-07, Vol.7 (7), p.1071-1082

1998

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Copy number variation in the genome; the human DMD gene as an example

Cytogenetic and genome research, 2006-11, Vol.115 (3-4), p.240-246

2006

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Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)

Neuromuscular disorders : NMD, 2011-08, Vol.21 (8), p.569-578

2011

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Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

American journal of medical genetics. Part A, 2005-04, Vol.134A (3), p.295-298

2005

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Recommendations for locus-specific databases and their curation

Human mutation, 2008, Vol.29 (1), p.2-5

2008

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Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Human mutation, 2000-01, Vol.15 (1), p.7-12

2000

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The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome

Familial cancer, 2013-06, Vol.12 (2), p.175-180

2013

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Nomenclature for the description of human sequence variations

Human genetics, 2001-07, Vol.109 (1), p.121-124

2001

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Determining the Higgs spin and parity in the diphoton decay channel

Physical review letters, 2013-07, Vol.111 (3), p.032002-032002, Article 032002

2013

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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting

Clinical pharmacology and therapeutics, 2016-02, Vol.99 (2), p.172-185

2016

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Dysregulated Fcγ receptor IIa‐induced cytokine production in dendritic cells of lupus nephritis patients

Clinical and experimental immunology, 2020-01, Vol.199 (1), p.39-49

2020

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Nomenclature for the description of human sequence variations

Accessing the Transverse Dynamics and Polarization of Gluons inside the Proton at the LHC

Collembolan Transcriptomes Highlight Molecular Evolution of Hexapods and Provide Clues on the Adaptation to Terrestrial Life

A full-body transcriptome and proteome resource for the European common carp

Next generation sequencing technology: Advances and applications

Linearly polarized gluons and the Higgs transverse momentum distribution

Relative power and sample size analysis on gene expression profiling data

FcγRIII stimulation breaks the tolerance of human nasal epithelial cells to bacteria through cross-talk with TLR4

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling

Common pathological mechanisms in mouse models for muscular dystrophies

TMD evolution and the Higgs transverse momentum distribution

WHSC1, a 90 kb SET Domain-Containing Gene, Expressed in Early Development and Homologous to a Drosophila Dysmorphy Gene Maps in the Wolf-Hirschhorn Syndrome Critical Region and is Fused to IgH in t(1;14) Multiple Myeloma

Copy number variation in the genome; the human DMD gene as an example

Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

Recommendations for locus-specific databases and their curation

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome

Nomenclature for the description of human sequence variations

Determining the Higgs spin and parity in the diphoton decay channel

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting

Dysregulated Fcγ receptor IIa‐induced cytokine production in dendritic cells of lupus nephritis patients

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