UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Global analysis of lysine acetylation suggests the involvement of protein acetylation in diverse biological processes in rice (Oryza sativa)

PloS one, 2014-02, Vol.9 (2), p.e89283-e89283

2014

Volltextzugriff (PDF)

Polycomb group gene OsFIE2 regulates rice (Oryza sativa) seed development and grain filling via a mechanism distinct from Arabidopsis

PLoS genetics, 2013-03, Vol.9 (3), p.e1003322-e1003322

2013

Volltextzugriff (PDF)

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

Annals of clinical and translational neurology, 2018-12, Vol.5 (12), p.1574-1587

2018

Volltextzugriff (PDF)

Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion

Muscle & nerve, 2019-07, Vol.60 (1), p.98-103

2019

Volltextzugriff (PDF)

P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing

Genetics in Medicine Open, 2024, Vol.2, p.101505, Article 101505

2024

Volltextzugriff (PDF)

P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene

Genetics in Medicine Open, 2024, Vol.2, p.101544, Article 101544

2024

Volltextzugriff (PDF)

P643: Unveiling noncoding DMD variants: Synergizing RNA sequencing and DNA sequencing for enhanced molecular diagnosis

Genetics in Medicine Open, 2024, Vol.2, p.101549, Article 101549

2024

Volltextzugriff (PDF)

P502: How does multiomics help variant reclassification?

Genetics in Medicine Open, 2023, Vol.1 (1), p.100549, Article 100549

2023

Volltextzugriff (PDF)

P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders

Genetics in Medicine Open, 2024, Vol.2, p.101583, Article 101583

2024

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)

Molecular Diagnosis of Duchenne Muscular Dystrophy

Current Protocols in Human Genetics, 2014-10, Vol.83 (1), p.9.25.1-9.25.29

2014

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)

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)

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Annals of clinical and translational neurology, 2019-04, Vol.6 (4), p.642-654

2019

Volltextzugriff (PDF)

Comparative Proteomic Analysis of Cotton Fiber Development and Protein Extraction Method Comparison in Late Stage Fibers

Proteomes, 2016-02, Vol.4 (1), p.7

2016

Volltextzugriff (PDF)

eP356: Exome sequencing expands the sensitivity and specificity of identification of sequence variants and CNVs in phenotypic females with DSD

Genetics in medicine, 2022-03, Vol.24 (3), p.S223-S224

2022

Volltextzugriff (PDF)

Pompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis

Molecular genetics and metabolism, 2023-05, Vol.139 (1), p.107565-107565, Article 107565

2023

Volltextzugriff (PDF)

Genome and exome analysis for detection of coding and non-coding sequencing and copy number variants in disorders of sexual development

Molecular genetics and metabolism, 2021-04, Vol.132, p.S255-S256

2021

Volltextzugriff (PDF)

eP497 - Global approach to prenatal testing

Molecular genetics and metabolism, 2021-04, Vol.132, p.S319-S319

2021

Volltextzugriff (PDF)

eP394 - Genome and exome analysis for detection of coding and non-coding sequencing and copy number variants in disorders of sexual development

Molecular genetics and metabolism, 2021-04, Vol.132, p.S255-S256

2021

Volltextzugriff (PDF)

Global approach to prenatal testing

Molecular genetics and metabolism, 2021-04, Vol.132, p.S319

2021

Volltextzugriff (PDF)

eP371: A diverse set of case presentation highlight the power of genome sequencing – What next?

Genetics in medicine, 2022-03, Vol.24 (3), p.S234-S234

2022

Volltextzugriff (PDF)

Reply to comment on: A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

Annals of clinical and translational neurology, 2015-07, Vol.2 (7), p.785-785

2015

Volltextzugriff (PDF)

eP357: Molecular diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using optical genome mapping

Genetics in medicine, 2022-03, Vol.24 (3), p.S224-S224

2022

Volltextzugriff (PDF)

1 – 25 von 35

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(30)
Mit Volltextzugriff
(33)

Publikationsform

Artikel
(34)
Dissertationen
(1)

Sprache

Englisch
(35)
Japanisch
(4)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Global analysis of lysine acetylation suggests the involvement of protein acetylation in diverse biological processes in rice (Oryza sativa)

Polycomb group gene OsFIE2 regulates rice (Oryza sativa) seed development and grain filling via a mechanism distinct from Arabidopsis

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion

P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing

P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene

P643: Unveiling noncoding DMD variants: Synergizing RNA sequencing and DNA sequencing for enhanced molecular diagnosis

P502: How does multiomics help variant reclassification?

P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders

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

Molecular Diagnosis of Duchenne Muscular Dystrophy

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

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

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Comparative Proteomic Analysis of Cotton Fiber Development and Protein Extraction Method Comparison in Late Stage Fibers

eP356: Exome sequencing expands the sensitivity and specificity of identification of sequence variants and CNVs in phenotypic females with DSD

Pompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis

Genome and exome analysis for detection of coding and non-coding sequencing and copy number variants in disorders of sexual development

eP497 - Global approach to prenatal testing

eP394 - Genome and exome analysis for detection of coding and non-coding sequencing and copy number variants in disorders of sexual development

Global approach to prenatal testing

eP371: A diverse set of case presentation highlight the power of genome sequencing – What next?

Reply to comment on: A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

eP357: Molecular diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using optical genome mapping

Suchergebnisse filtern