UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 32

Sortiert nach

Targeted transgene integration overcomes variability of position effects in zebrafish

Development (Cambridge), 2014-02, Vol.141 (3), p.715-724

2014

Volltextzugriff (PDF)

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

Genetics in medicine, 2018-12, Vol.20 (12), p.1600-1608

2018

Volltextzugriff (PDF)

P482: Application of CRISPR-Cas9 and next-generation sequencing to resolve highly homologous genes in the human genome

Genetics in Medicine Open, 2023, Vol.1 (1), p.100529, Article 100529

2023

Volltextzugriff (PDF)

P656: Resolving clinically relevant short read deficient homologous sequences using a novel CRISPR-CAS mediated targeted long read sequencing method

Genetics in Medicine Open, 2023, Vol.1 (1), p.100721, Article 100721

2023

Volltextzugriff (PDF)

Mice Mutant in the DM Domain Gene Dmrt4 Are Viable and Fertile but Have Polyovular Follicles

Molecular and Cellular Biology, 2006-12, Vol.26 (23), p.8984-8991

2006

Volltextzugriff (PDF)

P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging

Genetics in Medicine Open, 2024, Vol.2, p.101618, Article 101618

2024

Volltextzugriff (PDF)

P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test

Genetics in Medicine Open, 2023, Vol.1 (1), p.100425, Article 100425

2023

Volltextzugriff (PDF)

P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset

Genetics in Medicine Open, 2023, Vol.1 (1), p.100472, Article 100472

2023

Volltextzugriff (PDF)

P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing

Genetics in Medicine Open, 2023, Vol.1 (1), p.100473, Article 100473

2023

Volltextzugriff (PDF)

Next Generation Sequencing for the Diagnosis of Hereditary Hemolytic Anemias Including Pyruvate Kinase Deficiency: Report from a No-Cost Diagnostic Program

Blood, 2022-11, Vol.140 (Supplement 1), p.2436-2437

2022

Volltextzugriff (PDF)

Zebrafish dnm1a gene plays a role in the formation of axons and synapses in the nervous tissue

Journal of neuroscience research, 2023-08, Vol.101 (8), p.1345-1359

2023

Volltextzugriff (PDF)

Gene trapping using gal4 in zebrafish

Journal of visualized experiments, 2013-09 (79), p.e50113

2013

Volltextzugriff (PDF)

eP328: Establishing droplet digital PCR method for assessing mitochondrial DNA content in muscle

Genetics in medicine, 2022-03, Vol.24 (3), p.S205-S205

2022

Volltextzugriff (PDF)

Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test

Genetics in medicine, 2024-01, Vol.26 (1), p.100995, Article 100995

2024

Volltextzugriff (PDF)

Gene Trapping Using Gal4 in Zebrafish

Journal of visualized experiments, 2013-09 (79)

2013

Volltextzugriff (PDF)

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin

Clinical chemistry (Baltimore, Md.), 2018-04, Vol.64 (4), p.705-714

2018

Volltextzugriff (PDF)

The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer: Considerations and Proof of Concept Using an Epilepsy Panel

The Journal of molecular diagnostics : JMD, 2018-09, Vol.20 (5), p.643-652

2018

Volltextzugriff (PDF)

Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent

The Journal of molecular diagnostics : JMD, 2024-06, Vol.26 (6), p.510-519

2024

Volltextzugriff (PDF)

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Genetics in medicine, 2021-06, Vol.23 (6), p.1028-1040

2021

Volltextzugriff (PDF)

The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer

The Journal of molecular diagnostics : JMD, 2018-09, Vol.20 (5), p.643-652

2018

Volltextzugriff (PDF)

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

The Journal of molecular diagnostics : JMD, 2019-01, Vol.21 (1), p.38-48

2019

Volltextzugriff (PDF)

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene

Clinical genetics, 2022-02, Vol.101 (2), p.183-189

2022

Volltextzugriff (PDF)

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

The Journal of molecular diagnostics : JMD, 2022-03, Vol.24 (3), p.274-286

2022

Volltextzugriff (PDF)

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1890-1896

2018

Volltextzugriff (PDF)

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children

JAMA network open, 2023-07, Vol.6 (7), p.e2326445-e2326445

2023

Volltextzugriff (PDF)

1 – 25 von 32

Suche als RSS-Feed

Aktive Filter

KollektionIngentaConnect

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(31)
Mit Volltextzugriff
(30)

Publikationsform

Artikel
(31)
Dissertationen
(1)

Sprache

Englisch
(32)
Japanisch
(5)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Targeted transgene integration overcomes variability of position effects in zebrafish

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

P482: Application of CRISPR-Cas9 and next-generation sequencing to resolve highly homologous genes in the human genome

P656: Resolving clinically relevant short read deficient homologous sequences using a novel CRISPR-CAS mediated targeted long read sequencing method

Mice Mutant in the DM Domain Gene Dmrt4 Are Viable and Fertile but Have Polyovular Follicles

P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging

P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test

P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset

P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing

Next Generation Sequencing for the Diagnosis of Hereditary Hemolytic Anemias Including Pyruvate Kinase Deficiency: Report from a No-Cost Diagnostic Program

Zebrafish dnm1a gene plays a role in the formation of axons and synapses in the nervous tissue

Gene trapping using gal4 in zebrafish

eP328: Establishing droplet digital PCR method for assessing mitochondrial DNA content in muscle

Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test

Gene Trapping Using Gal4 in Zebrafish

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin

The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer: Considerations and Proof of Concept Using an Epilepsy Panel

Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children

Aktive Filter

Suchergebnisse filtern