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...

Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism

Zhonghua yi xue yi chuan xue za zhi, 2018-12, Vol.35 (6), p.836

2018

Volltextzugriff (PDF)

Niemann-Pick disease type C caused by NPC1 mutation in a case

Zhonghua yi xue yi chuan xue za zhi, 2019-05, Vol.36 (5), p.480

2019

Volltextzugriff (PDF)

Analysis of clinical characteristics and variant of NKX2-1 gene in a Chinese boy with Brain-Lung-Thyroid syndrome

Zhonghua yi xue yi chuan xue za zhi, 2024-08, Vol.41 (8), p.947

2024

Volltextzugriff (PDF)

Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I

Zhonghua yi xue yi chuan xue za zhi, 2023-11, Vol.40 (11), p.1345

2023

Volltextzugriff (PDF)

Clinical and genetic analysis of a child with Canavan disease due to compound heterozygous variants of ASPA gene

Zhonghua yi xue yi chuan xue za zhi, 2024-02, Vol.41 (2), p.225

2024

Volltextzugriff (PDF)

Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome

Zhonghua yi xue yi chuan xue za zhi, 2022-04, Vol.39 (4), p.428

2022

Volltextzugriff (PDF)

Clinical characteristics and genetic analysis of two children with Autosomal dominant mental retardation type 21 due to variants of CTCF gene

Zhonghua yi xue yi chuan xue za zhi, 2023-05, Vol.40 (5), p.543

2023

Volltextzugriff (PDF)

Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene

Zhonghua yi xue yi chuan xue za zhi, 2022-03, Vol.39 (3), p.316

2022

Volltextzugriff (PDF)

Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42

Zhonghua yi xue yi chuan xue za zhi, 2021-06, Vol.38 (6), p.565

2021

Volltextzugriff (PDF)

Analysis of a neonate with bullous congenital ichthyosiform erythroderma with next generation sequencing

Zhonghua yi xue yi chuan xue za zhi, 2018-06, Vol.35 (3), p.434

2018

Volltextzugriff (PDF)

Clinical and genetic analysis of an infant with 3-methylglutaconic aciduria type VII

Zhonghua yi xue yi chuan xue za zhi, 2020-04, Vol.37 (4), p.423

2020

Volltextzugriff (PDF)

Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing

Zhonghua yi xue yi chuan xue za zhi, 2020-04, Vol.37 (4), p.452

2020

Volltextzugriff (PDF)

Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome

Zhonghua yi xue yi chuan xue za zhi, 2020-02, Vol.37 (2), p.147

2020

Volltextzugriff (PDF)

Clinical and genetic analysis of a patient with periventricular nodular heterotopia 7 caused by NEDD4L gene variant

Zhonghua yi xue yi chuan xue za zhi, 2020-01, Vol.37 (1), p.41

2020

Volltextzugriff (PDF)

Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I

Zhonghua yi xue yi chuan xue za zhi, 2019-12, Vol.36 (12), p.1206

2019

Volltextzugriff (PDF)

Analysis of DOCK6 gene mutation in a child affected with Adams-Oliver syndrome type 2

Zhonghua yi xue yi chuan xue za zhi, 2019-04, Vol.36 (4), p.348

2019

Volltextzugriff (PDF)

Diagnosis of a case with oculocutaneous albinism type Ⅲ with next generation exome capture sequencing

Zhonghua yi xue yi chuan xue za zhi, 2017-02, Vol.34 (1), p.73

2017

Volltextzugriff (PDF)

Investigation and CFD simulation of coal dust explosion accident in confined space: A case study of Gaohe Coal Mine Ventilation Air Methane oxidation power plant

Fire safety journal, 2024-10, Vol.149, p.104237, Article 104237

2024

Volltextzugriff (PDF)

Data-driven Motion Planner for Autonomous Vehicle using an Ensemble of Global Map and Local view

2021 5th CAA International Conference on Vehicular Control and Intelligence (CVCI), 2021, p.1-6

2021

Volltextzugriff (PDF)

有机添加剂对三维多孔二氧化铅阳极性能的影响

材料工程, 2023-03, Vol.51 (3), p.166-173

2023

Volltextzugriff (PDF)

1 – 20 von 20

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(2)
Mit Volltextzugriff
(2)

Publikationsform

Artikel
(19)
Tagungsberichte
(1)

Sprache

Chinesisch
(18)
Englisch
(2)

Erscheinungsjahr

n.n

Thema

Humans
(17)
Mutation
(13)
Child
(12)
High-Throughput Nucleotide Sequencing
(7)
Intellectual Disability - Genetics
(7)
Heterozygote
(6)
Male
(6)
Female
(5)
Genetic Testing
(4)
Next Generation Sequencing
(3)
Base Sequence
(2)
Child, Preschool
(2)
Congenital Hypothyroidism - Genetics
(2)
Developmental Disabilities - Genetics
(2)
Family
(2)
Infant
(2)
Membrane Glycoproteins - Genetics
(2)
Pedigree
(2)
Phenotype
(2)
Whole Exome Sequencing
(2)

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

MEDLINE
(17)
Ingenta
(2)
IngentaConnect Journals
(1)
IEEE Xplore
(1)
Elsevier ScienceDirect Journals Complete
(1)

Zeitschrift / Serie

Menü

Weitere Dienste

Einstellungen

Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism

Niemann-Pick disease type C caused by NPC1 mutation in a case

Analysis of clinical characteristics and variant of NKX2-1 gene in a Chinese boy with Brain-Lung-Thyroid syndrome

Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I

Clinical and genetic analysis of a child with Canavan disease due to compound heterozygous variants of ASPA gene

Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome

Clinical characteristics and genetic analysis of two children with Autosomal dominant mental retardation type 21 due to variants of CTCF gene

Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene

Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42

Analysis of a neonate with bullous congenital ichthyosiform erythroderma with next generation sequencing

Clinical and genetic analysis of an infant with 3-methylglutaconic aciduria type VII

Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing

Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome

Clinical and genetic analysis of a patient with periventricular nodular heterotopia 7 caused by NEDD4L gene variant

Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I

Analysis of DOCK6 gene mutation in a child affected with Adams-Oliver syndrome type 2

Diagnosis of a case with oculocutaneous albinism type Ⅲ with next generation exome capture sequencing

Investigation and CFD simulation of coal dust explosion accident in confined space: A case study of Gaohe Coal Mine Ventilation Air Methane oxidation power plant

Data-driven Motion Planner for Autonomous Vehicle using an Ensemble of Global Map and Local view

有机添加剂对三维多孔二氧化铅阳极性能的影响

Suchergebnisse filtern