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...

Genomic and molecular landscape of homologous recombination deficiency across multiple cancer types

Scientific reports, 2023-06, Vol.13 (1), p.8899-8899, Article 8899

2023

Volltextzugriff (PDF)

Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China

Neurological sciences, 2022-06, Vol.43 (6), p.3989-3993

2022

Volltextzugriff (PDF)

The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

BMC pediatrics, 2024-01, Vol.24 (1), p.60-60, Article 60

2024

Volltextzugriff (PDF)

A phase I dose-escalation study of neoantigen-activated haploidentical T cell therapy for the treatment of relapsed or refractory peripheral T-cell lymphoma

Frontiers in oncology, 2022-11, Vol.12, p.944511-944511

2022

Volltextzugriff (PDF)

A novel heterozygous SIX1 missense mutation resulted in non-syndromic unilateral hearing loss

Frontiers in genetics, 2022-11, Vol.13, p.1047230-1047230

2022

Volltextzugriff (PDF)

Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities

Frontiers in genetics, 2022-04, Vol.13, p.859140-859140

2022

Volltextzugriff (PDF)

PD-1-CD28-enhanced receptor and CD19 CAR-modified tumor-infiltrating T lymphocytes produce potential anti-tumor ability in solid tumors

Biomedicine & pharmacotherapy, 2024-06, Vol.175, p.116800, Article 116800

2024

Volltextzugriff (PDF)

Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome

BMC pediatrics, 2019-04, Vol.19 (1), p.114-114, Article 114

2019

Volltextzugriff (PDF)

COL4A3 Gene Variants and Diabetic Kidney Disease in MODY

Clinical journal of the American Society of Nephrology, 2018-08, Vol.13 (8), p.1162-1171

2018

Volltextzugriff (PDF)

Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient

Molecular genetics & genomic medicine, 2022-06, Vol.10 (6), p.e1948-n/a

2022

Volltextzugriff (PDF)

Novel Variant Expands the Clinical Spectrum of CUX2-Associated Developmental and Epileptic Encephalopathies

Frontiers in genetics, 2022-07, Vol.13, p.808181-808181

2022

Volltextzugriff (PDF)

Emerging evidence of genotype–phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G

Frontiers in molecular neuroscience, 2022-08, Vol.15, p.950255-950255

2022

Volltextzugriff (PDF)

De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association

Frontiers in molecular neuroscience, 2023-02, Vol.16, p.1097553-1097553

2023

Volltextzugriff (PDF)

Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report

Frontiers in genetics, 2023-07, Vol.14, p.1037345

2023

Volltextzugriff (PDF)

Metagenomic next-generation sequencing for detecting lower respiratory tract infections in sputum and bronchoalveolar lavage fluid samples from children

Frontiers in cellular and infection microbiology, 2023-08, Vol.13, p.1228631-1228631

2023

Volltextzugriff (PDF)

Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment

Frontiers in genetics, 2021-11, Vol.12, p.794766

2021

Volltextzugriff (PDF)

Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy

Frontiers in molecular neuroscience, 2021-08, Vol.14, p.699574-699574

2021

Volltextzugriff (PDF)

Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder

Frontiers in molecular neuroscience, 2022-11, Vol.15, p.970649-970649

2022

Volltextzugriff (PDF)

Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract

Journal of ophthalmology, 2023-04, Vol.2023, p.1397107-1397107

2023

Volltextzugriff (PDF)

Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient

Molecular genetics & genomic medicine, 2021-10, Vol.9 (10), p.e1779-n/a

2021

Volltextzugriff (PDF)

Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq)

BMC nephrology, 2020-05, Vol.21 (1), p.171-171, Article 171

2020

Volltextzugriff (PDF)

Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing

Frontiers in genetics, 2022-09, Vol.13, p.951829-951829

2022

Volltextzugriff (PDF)

Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing

Open life sciences, 2023-05, Vol.18 (1), p.20220593-20220593

2023

Volltextzugriff (PDF)

The Role of Microtubule Associated Serine/Threonine Kinase 3 Variants in Neurodevelopmental Diseases: Genotype-Phenotype Association

Frontiers in molecular neuroscience, 2022-01, Vol.14, p.775479-775479

2022

Volltextzugriff (PDF)

Case Report: Novel CA12 Homozygous Variant Causing Isolated Hyperchloridrosis in a Chinese Child With Hyponatremia

Frontiers in pediatrics, 2022-03, Vol.10, p.820707

2022

Volltextzugriff (PDF)

1 – 25 von 84

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(73)
Mit Volltextzugriff
(75)

Publikationsform

Sprache

Englisch
(81)
Chinesisch
(3)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Genomic and molecular landscape of homologous recombination deficiency across multiple cancer types

Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China

The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

A phase I dose-escalation study of neoantigen-activated haploidentical T cell therapy for the treatment of relapsed or refractory peripheral T-cell lymphoma

A novel heterozygous SIX1 missense mutation resulted in non-syndromic unilateral hearing loss

Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities

PD-1-CD28-enhanced receptor and CD19 CAR-modified tumor-infiltrating T lymphocytes produce potential anti-tumor ability in solid tumors

Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome

COL4A3 Gene Variants and Diabetic Kidney Disease in MODY

Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient

Novel Variant Expands the Clinical Spectrum of CUX2-Associated Developmental and Epileptic Encephalopathies

Emerging evidence of genotype–phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G

De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association

Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report

Metagenomic next-generation sequencing for detecting lower respiratory tract infections in sputum and bronchoalveolar lavage fluid samples from children

Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment

Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy

Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder

Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract

Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient

Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq)

Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing

Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing

The Role of Microtubule Associated Serine/Threonine Kinase 3 Variants in Neurodevelopmental Diseases: Genotype-Phenotype Association

Case Report: Novel CA12 Homozygous Variant Causing Isolated Hyperchloridrosis in a Chinese Child With Hyponatremia

Suchergebnisse filtern