Lista de obras - Andreas W Schreiber - Dominio Público Uruguay

A comparative analysis of algorithms for somatic SNV detection in cancer.

artículo científico publicado en 2013

A framework for gene expression analysis.

artículo científico publicado en 2006

A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia

artículo científico publicado en 2019

A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease

scientific article published on 29 January 2020

A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone.

artículo científico publicado en 2015

ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II).

artículo científico publicado en 2017

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia

artículo científico publicado en 2014

ASXL1 and BIM germ line variants predict response and identify CML patients with the greatest risk of imatinib failure

scientific article published on 31 July 2017

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss

artículo científico publicado en 2015

BAM-matcher: a tool for rapid NGS sample matching

artículo científico publicado en 2016

Cell-specific vacuolar calcium storage mediated by CAX1 regulates apoplastic calcium concentration, gas exchange, and plant productivity in Arabidopsis

article

Clusters of genes encoding fructan biosynthesizing enzymes in wheat and barley

artículo científico publicado en 2012

Comment on "unique translation between Hamiltonian operators and functional integrals"

artículo científico publicado en 2002

Comparative transcriptomics in the Triticeae

artículo científico publicado en 2009

Deep-inelastic scattering from off-shell nucleons

artículo científico publicado en 1994

Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene

artículo científico publicado en 2015

Discovery of barley miRNAs through deep sequencing of short reads.

artículo científico publicado en 2011

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing

artículo científico publicado en 2016

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

scientific article published on 14 November 2019

Integration of cell adhesion reactions--a balance of forces?

scientific article published on 10 August 2005

Maize maintains growth in response to decreased nitrate supply through a highly dynamic and developmental stage-specific transcriptional response

artículo científico

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

artículo científico publicado en 2015

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

scientific journal article

Nutlin-3a efficacy in sarcoma predicted by transcriptomic and epigenetic profiling

artículo científico publicado en 2013

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome

artículo científico publicado en 2020

Pion cloud of the nucleon and its effect on deep-inelastic structure

artículo científico publicado en 1992

Polaron variational methods in the particle representation of field theory. I. General formalism

scientific article published on 01 March 1996

Polaron variational methods in the particle representation of field theory. II. Numerical results for the propagator

scientific article published on 01 March 1996

QCD evolution of the spin structure functions of the neutron and proton

article

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.

artículo científico publicado en 2017

Sequencing error correction without a reference genome

artículo científico publicado en 2013

Structure functions in the bag model

article

T cell receptor assessment in autoimmune disease requires access to the most adjacent immunologically active organ.

artículo científico publicado en 2017

The Genomic Landscape of Sporadic Prolactinomas

scientific article published on 01 December 2019

The RNA binding protein quaking regulates formation of circRNAs.

artículo científico publicado en 2015

The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution

artículo científico publicado en 2019

Transcriptome-scale homoeolog-specific transcript assemblies of bread wheat.

artículo científico publicado en 2012

miR-200/375 control epithelial plasticity-associated alternative splicing by repressing the RNA-binding protein Quaking.

artículo científico publicado en 2018

Lista de obras de Andreas W Schreiber

A comparative analysis of algorithms for somatic SNV detection in cancer.

A framework for gene expression analysis.

A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia

A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease

A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone.

ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II).

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia

ASXL1 and BIM germ line variants predict response and identify CML patients with the greatest risk of imatinib failure

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss

BAM-matcher: a tool for rapid NGS sample matching

Cell-specific vacuolar calcium storage mediated by CAX1 regulates apoplastic calcium concentration, gas exchange, and plant productivity in Arabidopsis

Clusters of genes encoding fructan biosynthesizing enzymes in wheat and barley

Comment on "unique translation between Hamiltonian operators and functional integrals"

Comparative transcriptomics in the Triticeae

Deep-inelastic scattering from off-shell nucleons

Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene

Discovery of barley miRNAs through deep sequencing of short reads.

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

Integration of cell adhesion reactions--a balance of forces?

Maize maintains growth in response to decreased nitrate supply through a highly dynamic and developmental stage-specific transcriptional response

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

Nutlin-3a efficacy in sarcoma predicted by transcriptomic and epigenetic profiling

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome

Pion cloud of the nucleon and its effect on deep-inelastic structure

Polaron variational methods in the particle representation of field theory. I. General formalism

Polaron variational methods in the particle representation of field theory. II. Numerical results for the propagator

QCD evolution of the spin structure functions of the neutron and proton

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.

Sequencing error correction without a reference genome

Structure functions in the bag model

T cell receptor assessment in autoimmune disease requires access to the most adjacent immunologically active organ.

The Genomic Landscape of Sporadic Prolactinomas

The RNA binding protein quaking regulates formation of circRNAs.

The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution

Transcriptome-scale homoeolog-specific transcript assemblies of bread wheat.

miR-200/375 control epithelial plasticity-associated alternative splicing by repressing the RNA-binding protein Quaking.