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SGCE isoform characterization and expression in human brain: implications for myoclonus―dystonia pathogenesis?

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.438-444

2011

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LAD-1/variant syndrome is caused by mutations in FERMT3

Blood, 2009-05, Vol.113 (19), p.4740-4746

2009

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An epigenetic and transcriptomic signature of immune tolerance in human monocytes through multi-omics integration

Genome medicine, 2021-08, Vol.13 (1), p.131-131, Article 131

2021

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Intracellular pyruvate levels positively correlate with cytokine production capacity in tolerant monocytes from patients with pneumonia

Biochimica et biophysica acta. Molecular basis of disease, 2022-11, Vol.1868 (11), p.166519-166519, Article 166519

2022

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Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian

Leukemia, 2021-07, Vol.35 (7), p.2125-2129

2021

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A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

Human molecular genetics, 2012-01, Vol.21 (2), p.358-370

2012

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Amplified fragment length polymorphism and whole genome sequencing: a comparison of methods in the investigation of a nosocomial outbreak with vancomycin resistant enterococci

Antimicrobial resistance & infection control, 2019-09, Vol.8 (1), p.153-153, Article 153

2019

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Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

Journal of medical genetics, 2013-09, Vol.50 (9), p.614-626

2013

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Metagenomic DNA sequencing for semi-quantitative pathogen detection from urine: a prospective, laboratory-based, proof-of-concept study

The Lancet. Microbe, 2022-08, Vol.3 (8), p.e588-e597

2022

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Human T-cell memory consists mainly of unexpanded clones

Immunology letters, 2010-09, Vol.133 (1), p.42-48

2010

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Streptococcus pneumoniae Arginine Synthesis Genes Promote Growth and Virulence in Pneumococcal Meningitis

The Journal of infectious diseases, 2014-06, Vol.209 (11), p.1781-1791

2014

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In vivo tumor growth inhibition and biodistribution studies of locked nucleic acid (LNA) antisense oligonucleotides

Nucleic acids research, 2003-02, Vol.31 (3), p.953

2003

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Looking ultra deep: Short identical sequences and transcriptional slippage

Genomics (San Diego, Calif.), 2011-08, Vol.98 (2), p.90-95

2011

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Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis

Neuromuscular disorders : NMD, 2007-12, Vol.17 (11), p.964-967

2007

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A sensitive assay for virus discovery in respiratory clinical samples

PloS one, 2011-01, Vol.6 (1), p.e16118-e16118

2011

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Ribonuclease H1 Maps to Chromosome 2 and Has at Least Three Pseudogene Loci in the Human Genome

Genomics (San Diego, Calif.), 2002-06, Vol.79 (6), p.818-823

2002

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Genetic analysis of fetal nucleated red blood cells from CVS washings

Prenatal diagnosis, 2000-10, Vol.20 (10), p.832-834

2000

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SGCE isoform characterization and expression in human brain: implications for myoclonusadystonia pathogenesis?

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.438-444

2011

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Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene

The Journal of clinical investigation, 1996-08, Vol.98 (4), p.1028-1033

1996

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Enrichment, identification and analysis of fetal cells from maternal blood: evaluation of a prenatal diagnosis system

Prenatal diagnosis, 1999-07, Vol.19 (7), p.648-652

1999

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First-trimester non-invasive prenatal diagnosis of triploidy

Prenatal diagnosis, 1999-02, Vol.19 (2), p.175-177

1999

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The application of microwave denaturation in comparative genomic hybridization

Genetic analysis : biomolecular engineering, 1996-11, Vol.13 (5), p.129-133

1996

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Recommendations from the United European Gastroenterology evidence-based guidelines for the diagnosis and therapy of chronic pancreatitis

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2018-12, Vol.18 (8), p.847-854

2018

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Dexmedetomidine versus propofol/midazolam for long-term sedation during mechanical ventilation

Intensive care medicine, 2009-02, Vol.35 (2), p.282-290

2009

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Interpersonalität und Textsortenstile: kontrastive Aspekte (Deutsch-Finnisch)

Perspektiven Auf Stil, 2001, Vol.226, p.187-204

Originally published 2001, 2001

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SGCE isoform characterization and expression in human brain: implications for myoclonus―dystonia pathogenesis?

LAD-1/variant syndrome is caused by mutations in FERMT3

An epigenetic and transcriptomic signature of immune tolerance in human monocytes through multi-omics integration

Intracellular pyruvate levels positively correlate with cytokine production capacity in tolerant monocytes from patients with pneumonia

Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

Amplified fragment length polymorphism and whole genome sequencing: a comparison of methods in the investigation of a nosocomial outbreak with vancomycin resistant enterococci

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

Metagenomic DNA sequencing for semi-quantitative pathogen detection from urine: a prospective, laboratory-based, proof-of-concept study

Human T-cell memory consists mainly of unexpanded clones

Streptococcus pneumoniae Arginine Synthesis Genes Promote Growth and Virulence in Pneumococcal Meningitis

In vivo tumor growth inhibition and biodistribution studies of locked nucleic acid (LNA) antisense oligonucleotides

Looking ultra deep: Short identical sequences and transcriptional slippage

Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis

A sensitive assay for virus discovery in respiratory clinical samples

Ribonuclease H1 Maps to Chromosome 2 and Has at Least Three Pseudogene Loci in the Human Genome

Genetic analysis of fetal nucleated red blood cells from CVS washings

SGCE isoform characterization and expression in human brain: implications for myoclonusadystonia pathogenesis?

Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene

Enrichment, identification and analysis of fetal cells from maternal blood: evaluation of a prenatal diagnosis system

First-trimester non-invasive prenatal diagnosis of triploidy

The application of microwave denaturation in comparative genomic hybridization

Recommendations from the United European Gastroenterology evidence-based guidelines for the diagnosis and therapy of chronic pancreatitis

Dexmedetomidine versus propofol/midazolam for long-term sedation during mechanical ventilation

Interpersonalität und Textsortenstile: kontrastive Aspekte (Deutsch-Finnisch)

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