UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 33

Sortiert nach

A Next-Generation Sequencing Primer—How Does It Work and What Can It Do?

Academic Pathology, 2018-01, Vol.5, p.2374289518766521-2374289518766521, Article 2374289518766521

2018

Link zum Volltext

Verfügbarkeit prüfen

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2731-2739

2016

Link zum Volltext

Verfügbarkeit prüfen

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome

American journal of medical genetics. Part A, 2010-10, Vol.152A (10), p.2475-2481

2010

Link zum Volltext

Verfügbarkeit prüfen

RNAseq analysis for the diagnosis of muscular dystrophy

Annals of clinical and translational neurology, 2016-01, Vol.3 (1), p.55-60

2016

Link zum Volltext

Verfügbarkeit prüfen

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

Npj genomic medicine, 2017-05, Vol.2 (1), p.19-8, Article 19

2017

Link zum Volltext

Verfügbarkeit prüfen

A T-to-G Transversion at Nucleotide −567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F

Molecular and Cellular Biology, 2008-07, Vol.28 (13), p.4386-4393

2008

Link zum Volltext

Verfügbarkeit prüfen

Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism

American journal of medical genetics. Part A, 2011-08, Vol.155 (8), p.1987-1990

2011

Link zum Volltext

Verfügbarkeit prüfen

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Genetics in medicine, 2018-04, Vol.20 (4), p.435-443

2018

Link zum Volltext

Verfügbarkeit prüfen

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

American journal of human genetics, 2017-05, Vol.100 (5), p.773-788

2017

Link zum Volltext

Verfügbarkeit prüfen

eP415 - Expanding the mutational spectrum for branchiooculofacial syndrome: a novel nonsense variant

Molecular genetics and metabolism, 2021-04, Vol.132, p.S269-S269

2021

Link zum Volltext

Verfügbarkeit prüfen

Expanding the mutational spectrum for branchiooculofacial syndrome: a novel nonsense variant

Molecular genetics and metabolism, 2021-04, Vol.132, p.S269

2021

Link zum Volltext

Verfügbarkeit prüfen

β-thalassemia intermedia due to compound heterozygosity for two β-globin gene promoter mutations, including a novel TATA box deletion

Pediatric blood & cancer, 2008-02, Vol.50 (2), p.363-366

2008

Link zum Volltext

Verfügbarkeit prüfen

Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

European journal of human genetics : EJHG, 2017-09, Vol.25 (9), p.1031-1039

2017

Link zum Volltext

Verfügbarkeit prüfen

THE Hb S β+-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele

Hemoglobin, 2008-01, Vol.32 (3), p.303-307

2008

Link zum Volltext

Verfügbarkeit prüfen

Prenatal Diagnosis of Hemoglobinopathies in Ontario, Canada

Annals of the New York Academy of Sciences, 2005-01, Vol.1054 (1), p.507-510

2005

Link zum Volltext

Verfügbarkeit prüfen

Reply to Brioude et al

European journal of human genetics : EJHG, 2018-04, Vol.26 (4), p.473-474

2018

Link zum Volltext

Verfügbarkeit prüfen

Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7‐kb β‐globin gene deletion

European journal of haematology, 2007-01, Vol.78 (1), p.82-85

2007

Link zum Volltext

Verfügbarkeit prüfen

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

European journal of human genetics : EJHG, 2017-12, Vol.25 (12), p.1303-1312

2017

Link zum Volltext

Verfügbarkeit prüfen

An Update on Molecular Diagnostic Testing of Human Imprinting Disorders

Journal of pediatric genetics (Birmingham, Ala.), 2017-03, Vol.6 (1), p.003-017

2017

Link zum Volltext

Verfügbarkeit prüfen

MG-129 Our experience of in silico gene panel testing for clinically heterogeneous disorders using exome sequencing

Journal of medical genetics, 2015-11, Vol.52 (Suppl 2), p.A11-A11

2015

Link zum Volltext

Verfügbarkeit prüfen

Two New α-Thalassemia Frameshift Mutations

Hemoglobin, 2007-01, Vol.31 (2), p.135-139

2007

Link zum Volltext

Verfügbarkeit prüfen

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

Journal of medical genetics, 2015-07, Vol.52 (7), p.438-445

2015

Link zum Volltext

Verfügbarkeit prüfen

MG-130 Utilising whole exome sequencing to identify causative variants in genetically heterogeneous disorders

Journal of medical genetics, 2015-11, Vol.52 (Suppl 2), p.A11-A11

2015

Link zum Volltext

Verfügbarkeit prüfen

b-thalassemia intermedia due to compound heterozygosity for two b-globin gene promoter mutations, including a novel TATA box deletion

Pediatric Blood & Cancer, 2008-02, Vol.50 (2), p.363-366

2008

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 33

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(29)
Mit Volltextzugriff
(32)

Publikationsform

Sprache

Englisch
(33)
Japanisch
(3)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

A Next-Generation Sequencing Primer—How Does It Work and What Can It Do?

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome

RNAseq analysis for the diagnosis of muscular dystrophy

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

A T-to-G Transversion at Nucleotide −567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F

Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

eP415 - Expanding the mutational spectrum for branchiooculofacial syndrome: a novel nonsense variant

Expanding the mutational spectrum for branchiooculofacial syndrome: a novel nonsense variant

β-thalassemia intermedia due to compound heterozygosity for two β-globin gene promoter mutations, including a novel TATA box deletion

Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

THE Hb S β+-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele

Prenatal Diagnosis of Hemoglobinopathies in Ontario, Canada

Reply to Brioude et al

Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7‐kb β‐globin gene deletion

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

An Update on Molecular Diagnostic Testing of Human Imprinting Disorders

MG-129 Our experience of in silico gene panel testing for clinically heterogeneous disorders using exome sequencing

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Two New α-Thalassemia Frameshift Mutations

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

MG-130 Utilising whole exome sequencing to identify causative variants in genetically heterogeneous disorders

b-thalassemia intermedia due to compound heterozygosity for two b-globin gene promoter mutations, including a novel TATA box deletion

Suchergebnisse filtern