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Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS)

Journal of clinical medicine, 2022-08, Vol.11 (17), p.5158

2022

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3348 Cell-free DNA V600E measurements during vemurafenib therapy of metastatic melanoma patients

European journal of cancer (1990), 2015-09, Vol.51, p.S684-S684

2015

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3313 The next generation sequencing (NGS) analysis of selected genes and pathways in clinical stage III cutaneous melanoma

European journal of cancer (1990), 2015-09, Vol.51, p.S668-S668

2015

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Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

Molecular genetics and metabolism reports, 2018-03, Vol.14 (C), p.73-79

2018

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Combined spatial and temporal imaging of brain activity during visual selective attention in humans

Nature (London), 1994-12, Vol.372 (6506), p.543-546

1994

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Genome-wide RNA polymerase II profiles and RNA accumulation reveal kinetics of transcription and associated epigenetic changes during diurnal cycles

PLoS biology, 2012-11, Vol.10 (11), p.e1001442-e1001442

2012

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The Gene Ontology: enhancements for 2011

Nucleic acids research, 2012-01, Vol.40 (Database issue), p.D559

Gene Ontology Consortium

2012

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A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y

Human genetics, 1999-11, Vol.105 (5), p.399-409

1999

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Genome-wide analysis of SREBP1 activity around the clock reveals its combined dependency on nutrient and circadian signals

PLoS genetics, 2014-03, Vol.10 (3), p.e1004155-e1004155

2014

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Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy

European journal of human genetics : EJHG, 2013-04, Vol.21 (4), p.391-396

2013

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Schizophrenia and chromosomal deletions within 22q11.2

American journal of human genetics, 1995-06, Vol.56 (6), p.1502-1503

1995

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Mapping of the Gene for the p60 Subunit of the Human Chromatin Assembly Factor (CAF1A) to the Down Syndrome Region of Chromosome 21

Genomics (San Diego, Calif.), 1996-04, Vol.33 (2), p.309-312

1996

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Localization of a Human Homolog of the Mouse Pericentrin Gene (PCNT) to Chromosome 21qter

Genomics (San Diego, Calif.), 1996-08, Vol.35 (3), p.620-624

1996

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Single-minded and Down syndrome?

Nature genetics, 1995-05, Vol.10 (1), p.9-10

1995

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1441PPROGRAMMED DEATH LIGAND-1 (PD-L1) EXPRESSION AND PROGNOSTIC VALUE IN SYNOVIAL SARCOMA

Annals of oncology, 2014-09, Vol.25 (suppl_4), p.iv503-iv504

2014

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The mTOR kinase directly regulates FBP1 gene expression via interaction with SWI/SNF chromatin remodeling complex in clear cell renal cell carcinoma (ccRCC)

European urology supplements : official journal of the European Association of Urology, 2019-10, Vol.18 (8), p.e3056

2019

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O17 - The mTOR kinase directly regulates FBP1 gene expression via interaction with SWI/SNF chromatin remodeling complex in clear cell renal cell carcinoma (ccRCC)

European urology supplements : official journal of the European Association of Urology, 2019-10, Vol.18 (8), p.e3056-e3056

2019

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A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y

Human genetics, 1999-11, Vol.105 (5), p.399-409

1999

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A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination

American journal of human genetics, 1995-08, Vol.57 (2), p.388-394

1995

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Polarized secretion of urokinase-type plasminogen activator by epithelial cells

Experimental cell research, 1992-11, Vol.203 (1), p.236-243

1992

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Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping

Cytogenetics and cell genetics, 1999, Vol.84 (3-4), p.188

1999

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The Gene for Human U2 snRNP Auxiliary Factor Small 35-kDa Subunit (U2AF1) Maps to the Progressive Myoclonus Epilepsy (EPM1) Critical Region on Chromosome 21q22.3

Genomics (San Diego, Calif.), 1996-04, Vol.33 (2), p.298-300

1996

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NEUROPROTECTIVE EFFECTS OF SWIMMING TRAINING IN A MOUSE MODEL OF PARKINSON'S DISEASE INDUCED BY 6-HYDROXYDOPAMINE

Neuroscience, 2014, Vol.256, p.61-71

2014

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Compression of the left coronary artery by a calcified subaortic left ventricular diverticulum

RöFo : Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebende Verfahren, 1985-06, Vol.142 (6), p.694

1985

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Die medikamentöse Therapie der menstruellen Migräne

Schmerz (Berlin, Germany), 1996-06, Vol.10 (3), p.146-148

Pfaffenrath, V.

1996

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Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS)

3348 Cell-free DNA V600E measurements during vemurafenib therapy of metastatic melanoma patients

3313 The next generation sequencing (NGS) analysis of selected genes and pathways in clinical stage III cutaneous melanoma

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

Combined spatial and temporal imaging of brain activity during visual selective attention in humans

Genome-wide RNA polymerase II profiles and RNA accumulation reveal kinetics of transcription and associated epigenetic changes during diurnal cycles

The Gene Ontology: enhancements for 2011

A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y

Genome-wide analysis of SREBP1 activity around the clock reveals its combined dependency on nutrient and circadian signals

Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy

Schizophrenia and chromosomal deletions within 22q11.2

Mapping of the Gene for the p60 Subunit of the Human Chromatin Assembly Factor (CAF1A) to the Down Syndrome Region of Chromosome 21

Localization of a Human Homolog of the Mouse Pericentrin Gene (PCNT) to Chromosome 21qter

Single-minded and Down syndrome?

1441PPROGRAMMED DEATH LIGAND-1 (PD-L1) EXPRESSION AND PROGNOSTIC VALUE IN SYNOVIAL SARCOMA

The mTOR kinase directly regulates FBP1 gene expression via interaction with SWI/SNF chromatin remodeling complex in clear cell renal cell carcinoma (ccRCC)

O17 - The mTOR kinase directly regulates FBP1 gene expression via interaction with SWI/SNF chromatin remodeling complex in clear cell renal cell carcinoma (ccRCC)

A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y

A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination

Polarized secretion of urokinase-type plasminogen activator by epithelial cells

Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping

The Gene for Human U2 snRNP Auxiliary Factor Small 35-kDa Subunit (U2AF1) Maps to the Progressive Myoclonus Epilepsy (EPM1) Critical Region on Chromosome 21q22.3

NEUROPROTECTIVE EFFECTS OF SWIMMING TRAINING IN A MOUSE MODEL OF PARKINSON'S DISEASE INDUCED BY 6-HYDROXYDOPAMINE

Compression of the left coronary artery by a calcified subaortic left ventricular diverticulum

Die medikamentöse Therapie der menstruellen Migräne

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