UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 139

Sortiert nach

Therapeutic homology-independent targeted integration in retina and liver

Nature communications, 2022-04, Vol.13 (1), p.1963-1963, Article 1963

2022

Volltextzugriff (PDF)

Streptozotocin-Induced Type 1 and 2 Diabetes Mellitus Mouse Models Show Different Functional, Cellular and Molecular Patterns of Diabetic Cardiomyopathy

International journal of molecular sciences, 2023-01, Vol.24 (2), p.1132

2023

Volltextzugriff (PDF)

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

PloS one, 2020-08, Vol.15 (8), p.e0237803-e0237803

2020

Volltextzugriff (PDF)

Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies

BMC medical genomics, 2021-03, Vol.14 (1), p.93-11, Article 93

2021

Volltextzugriff (PDF)

Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism

Journal of lipid research, 2024-03, Vol.65 (3), p.100517-100517, Article 100517

2024

Volltextzugriff (PDF)

Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically

International journal of molecular sciences, 2023-05, Vol.24 (11), p.9241

2023

Volltextzugriff (PDF)

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

European journal of human genetics : EJHG, 2019-08, Vol.27 (8), p.1254-1259

2019

Volltextzugriff (PDF)

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

Scientific reports, 2022-12, Vol.12 (1), p.20815-20815, Article 20815

2022

Volltextzugriff (PDF)

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1

PloS one, 2018-07, Vol.13 (7), p.e0200446-e0200446

2018

Volltextzugriff (PDF)

In vitro CSC-derived cardiomyocytes exhibit the typical microRNA-mRNA blueprint of endogenous cardiomyocytes

Communications biology, 2021-09, Vol.4 (1), p.1146-1146, Article 1146

2021

Volltextzugriff (PDF)

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy

Genes, 2023-01, Vol.14 (1), p.214

2023

Volltextzugriff (PDF)

RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome

Nature communications, 2023-05, Vol.14 (1), p.2775-2775, Article 2775

2023

Volltextzugriff (PDF)

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Nature communications, 2024-01, Vol.15 (1), p.365-365, Article 365

2024

Volltextzugriff (PDF)

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs

Human molecular genetics, 2020-08, Vol.29 (13), p.2250-2260

2020

Volltextzugriff (PDF)

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Frontiers in genetics, 2020-03, Vol.11, p.131-131

2020

Volltextzugriff (PDF)

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Acta neuropathologica, 2021-08, Vol.142 (2), p.375-393

2021

Volltextzugriff (PDF)

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

PloS one, 2013-05, Vol.8 (5), p.e63536-e63536

2013

Volltextzugriff (PDF)

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

Human mutation, 2020-10, Vol.41 (10), p.1761-1774

2020

Volltextzugriff (PDF)

Expanding the phenotype of DST‐related disorder: A case report suggesting a genotype/phenotype correlation

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2743-2746

2017

Volltextzugriff (PDF)

A new family with transportinopathy: increased clinical heterogeneity

Therapeutic advances in neurological disorders, 2019-06, Vol.12, p.1756286419850433

2019

Volltextzugriff (PDF)

Expansion of the phenotype of lateral meningocele syndrome

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1259-1262

2020

Volltextzugriff (PDF)

Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development

Frontiers in neuroscience, 2020-06, Vol.14, p.644-644

2020

Volltextzugriff (PDF)

VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage

Genes, 2021-12, Vol.12 (12), p.1979

2021

Volltextzugriff (PDF)

De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum

Brain & development (Tokyo. 1979), 2022-08, Vol.44 (7), p.480-485

2022

Volltextzugriff (PDF)

1 – 25 von 139

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(129)
Mit Volltextzugriff
(134)

Publikationsform

Artikel
(133)
Berichte
(6)

Sprache

Englisch
(139)
Japanisch
(9)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Therapeutic homology-independent targeted integration in retina and liver

Streptozotocin-Induced Type 1 and 2 Diabetes Mellitus Mouse Models Show Different Functional, Cellular and Molecular Patterns of Diabetic Cardiomyopathy

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies

Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism

Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

Genotype-phenotype correlations in recessive titinopathies

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1

In vitro CSC-derived cardiomyocytes exhibit the typical microRNA-mRNA blueprint of endogenous cardiomyocytes

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy

RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

Expanding the phenotype of DST‐related disorder: A case report suggesting a genotype/phenotype correlation

A new family with transportinopathy: increased clinical heterogeneity

Expansion of the phenotype of lateral meningocele syndrome

Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development

VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage

De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum

Suchergebnisse filtern