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...

Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family

BMC medical genomics, 2021-03, Vol.14 (1), p.88-6, Article 88

2021

Volltextzugriff (PDF)

Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis

The journal of obstetrics and gynaecology research, 2021-03, Vol.47 (3), p.1002-1008

2021

Volltextzugriff (PDF)

Clathrin-mediated integrin αIIbβ3 trafficking controls platelet spreading

Platelets (Edinburgh), 2018-08, Vol.29 (6), p.610-621

2018

Volltextzugriff (PDF)

Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing

Frontiers in genetics, 2021-11, Vol.12, p.762987-762987

2021

Volltextzugriff (PDF)

Next-generation variant exon screening: Moving forward in routine genetic disease investigations

Genetics in Medicine Open, 2024, Vol.2, p.101816, Article 101816

2024

Volltextzugriff (PDF)

Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios

Molecular genetics & genomic medicine, 2023-01, Vol.11 (1), p.e2089-n/a

2023

Volltextzugriff (PDF)

Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases

Molecular genetics & genomic medicine, 2019-10, Vol.7 (10), p.e00944-n/a

2019

Volltextzugriff (PDF)

Platelet MEKK3 regulates arterial thrombosis and myocardial infarct expansion in mice

Blood advances, 2018-06, Vol.2 (12), p.1439-1448

2018

Volltextzugriff (PDF)

Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study

Human mutation, 2021-08, Vol.42 (8), p.990-1004

2021

Volltextzugriff (PDF)

Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

The Journal of steroid biochemistry and molecular biology, 2022-09, Vol.222, p.106156-106156, Article 106156

2022

Volltextzugriff (PDF)

Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency

Steroids, 2021-09, Vol.173, p.108873-108873, Article 108873

2021

Volltextzugriff (PDF)

Clinical and genetic analysis of ten Chinese pedigrees affected with 7q11.23 duplication syndrome

Zhonghua yi xue yi chuan xue za zhi, 2024-02, Vol.41 (2), p.140

2024

Volltextzugriff (PDF)

The uncertainty of copy number variants: pregnancy decisions and clinical follow-up

American journal of obstetrics and gynecology, 2023-08, Vol.229 (2), p.170.e1-170.e8

2023

Volltextzugriff (PDF)

Platelet-Specific p38α Deficiency Improved Cardiac Function After Myocardial Infarction in Mice

Arteriosclerosis, thrombosis, and vascular biology, 2017-12, Vol.37 (12), p.e185

2017

Volltextzugriff (PDF)

The value of combined CNV-Seq and chromosomal karyotyping for the detection of amniocytic mosaicisms and a literature review

Zhonghua yi xue yi chuan xue za zhi, 2023-08, Vol.40 (8), p.954

2023

Volltextzugriff (PDF)

Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China

Haemophilia : the official journal of the World Federation of Hemophilia, 2021-01, Vol.27 (1), p.e88-e92

2021

Volltextzugriff (PDF)

The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes

Prenatal diagnosis, 2021-09, Vol.41 (10), p.1332-1342

2021

Volltextzugriff (PDF)

Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia

Zhonghua yi xue yi chuan xue za zhi, 2021-08, Vol.38 (8), p.727

2021

Volltextzugriff (PDF)

Hermansky–Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6

European journal of medical genetics, 2021-06, Vol.64 (6), p.104228-104228, Article 104228

2021

Volltextzugriff (PDF)

Clinical phenotype and genetic analysis of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q

Zhonghua yi xue yi chuan xue za zhi, 2023-08, Vol.40 (8), p.1028

2023

Volltextzugriff (PDF)

Genetic analysis of a case with Pierre-Robin sequence due to partial 1q trisomy and partial 4q monosomy

Zhonghua yi xue yi chuan xue za zhi, 2021-04, Vol.38 (4), p.369

2021

Volltextzugriff (PDF)

Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders

Zhonghua yi xue yi chuan xue za zhi, 2024-06, Vol.41 (6), p.685

2024

Volltextzugriff (PDF)

Application of CNV-seq and chromosomal karyotyping in the prenatal diagnosis for carriers of balanced translocations

Zhonghua yi xue yi chuan xue za zhi, 2022-04, Vol.39 (4), p.366

2022

Volltextzugriff (PDF)

Analysis of genome copy number variations in fetuses with isolated ventricular septal defect and a literature review

Zhonghua yi xue yi chuan xue za zhi, 2023-03, Vol.40 (3), p.317

2023

Volltextzugriff (PDF)

Paired immunoglobulin-like receptor B regulates platelet activation

Blood, 2014-10, Vol.124 (15), p.2421-2430

2014

Volltextzugriff (PDF)

1 – 25 von 60

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(45)
Mit Volltextzugriff
(45)

Publikationsform

Artikel
(60)

Sprache

Englisch
(49)
Chinesisch
(11)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family

Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis

Clathrin-mediated integrin αIIbβ3 trafficking controls platelet spreading

Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing

Next-generation variant exon screening: Moving forward in routine genetic disease investigations

Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios

Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases

Platelet MEKK3 regulates arterial thrombosis and myocardial infarct expansion in mice

Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study

Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency

Clinical and genetic analysis of ten Chinese pedigrees affected with 7q11.23 duplication syndrome

The uncertainty of copy number variants: pregnancy decisions and clinical follow-up

Platelet-Specific p38α Deficiency Improved Cardiac Function After Myocardial Infarction in Mice

The value of combined CNV-Seq and chromosomal karyotyping for the detection of amniocytic mosaicisms and a literature review

Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China

The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes

Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia

Hermansky–Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6

Clinical phenotype and genetic analysis of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q

Genetic analysis of a case with Pierre-Robin sequence due to partial 1q trisomy and partial 4q monosomy

Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders

Application of CNV-seq and chromosomal karyotyping in the prenatal diagnosis for carriers of balanced translocations

Analysis of genome copy number variations in fetuses with isolated ventricular septal defect and a literature review

Paired immunoglobulin-like receptor B regulates platelet activation

Suchergebnisse filtern