UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 33

Sortiert nach

Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach

BMC medical genomics, 2021-11, Vol.14 (1), p.275-275, Article 275

2021

Volltextzugriff (PDF)

A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool?

Journal of translational medicine, 2022-06, Vol.20 (1), p.269-269, Article 269

2022

Volltextzugriff (PDF)

Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports

Molecular genetics & genomic medicine, 2022-09, Vol.10 (9), p.e2002-n/a

2022

Volltextzugriff (PDF)

Clinical Application of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies in Central China

Frontiers in medicine, 2022-01, Vol.8, p.672211-672211

2022

Volltextzugriff (PDF)

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

Molecular cytogenetics, 2019-12, Vol.12 (1), p.53-6, Article 53

2019

Volltextzugriff (PDF)

Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm

BMC medical genomics, 2021-12, Vol.14 (1), p.294-294, Article 294

2021

Volltextzugriff (PDF)

Protein kinase D1 is essential for Ras-induced senescence and tumor suppression by regulating senescence-associated inflammation

Proceedings of the National Academy of Sciences - PNAS, 2014-05, Vol.111 (21), p.7683-7688

2014

Volltextzugriff (PDF)

Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e653-n/a

2019

Volltextzugriff (PDF)

Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review

Genes, 2020-12, Vol.12 (1), p.11

2020

Volltextzugriff (PDF)

SIRT6 delays cellular senescence by promoting p27Kip1 ubiquitin-proteasome degradation

Aging (Albany, NY.), 2016-09, Vol.8 (10), p.2308-2323

2016

Volltextzugriff (PDF)

Molecular findings in patients for whole exome sequencing and mitochondrial genome assessment

Clinica chimica acta, 2024-07, Vol.561, p.119774, Article 119774

2024

Volltextzugriff (PDF)

Prenatal diagnosis and pregnancy outcome of fetuses with rare autosomal trisomies indicated by non-invasive prenatal testing

Zhonghua yi xue yi chuan xue za zhi, 2023-05, Vol.40 (5), p.513

2023

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)

Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing

Neurological sciences, 2022-07, Vol.43 (7), p.4439-4451

2022

Volltextzugriff (PDF)

Genetic analysis of a case with Al Kaissi syndrome and a literature review

Zhonghua yi xue yi chuan xue za zhi, 2024-02, Vol.41 (2), p.193

2024

Volltextzugriff (PDF)

Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype

European journal of medical genetics, 2020-09, Vol.63 (9), p.104006-104006, Article 104006

2020

Volltextzugriff (PDF)

Analysis of a case with heterozygous 14q12 deletion and FOXG1 gene-related disease

Zhonghua yi xue yi chuan xue za zhi, 2021-04, Vol.38 (4), p.366

2021

Volltextzugriff (PDF)

hnRNP A1 antagonizes cellular senescence and senescence‐associated secretory phenotype via regulation of SIRT1 mRNA stability

Aging cell, 2016-12, Vol.15 (6), p.1063-1073

2016

Volltextzugriff (PDF)

Acetylation of FOXM1 is essential for its transactivation and tumor growth stimulation

Oncotarget, 2016-09, Vol.7 (37), p.60366-60382

2016

Volltextzugriff (PDF)

The value of re-sampling for patients who had failed non-invasive prenatal testing due to low cell-free fetal DNA fraction

Zhonghua yi xue yi chuan xue za zhi, 2022-02, Vol.39 (2), p.135

2022

Volltextzugriff (PDF)

SIRT6 delays cellular senescence by promoting p27Kip1 ubiquitin-proteasome degradation

Aging (Albany, NY.), 2016-09, Vol.8 (10), p.2308-2323

2016

Volltextzugriff (PDF)

Non-invasive prenatal detection of ocutaneous albinism type I based on cfDNA barcode-enabled single-molecule test

Zhonghua yi xue yi chuan xue za zhi, 2021-04, Vol.38 (4), p.317

2021

Volltextzugriff (PDF)

Calorie restriction upregulated sirtuin 1 by attenuating its ubiquitin degradation in cancer cells

Clinical and experimental pharmacology & physiology, 2014-03, Vol.41 (3), p.165-168

2014

Volltextzugriff (PDF)

Results of non-invasive prenatal testing for 2473 women with twin pregnancy

Zhonghua yi xue yi chuan xue za zhi, 2021-04, Vol.38 (4), p.313

2021

Volltextzugriff (PDF)

Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome

Biomedical reports, 2020-08, Vol.13 (2), p.1-4

2020

Volltextzugriff (PDF)

1 – 25 von 33

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(20)
Mit Volltextzugriff
(27)

Publikationsform

Artikel
(32)
Berichte
(1)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

Zhonghua Yi Xue Yi Chuan Xue Za Zhi
(6)
Aging
(2)
Biomedical Reports
(2)
Bmc Medical Genomics
(2)
Febs Letters
(2)
Molecular Genetics & Genomic Medicine
(2)
Protein & Cell
(2)
Aging Cell
(1)
Applied Physics Letters
(1)
Clinica Chimica Acta
(1)

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach

A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool?

Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports

Clinical Application of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies in Central China

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm

Protein kinase D1 is essential for Ras-induced senescence and tumor suppression by regulating senescence-associated inflammation

Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique

Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review

SIRT6 delays cellular senescence by promoting p27Kip1 ubiquitin-proteasome degradation

Molecular findings in patients for whole exome sequencing and mitochondrial genome assessment

Prenatal diagnosis and pregnancy outcome of fetuses with rare autosomal trisomies indicated by non-invasive prenatal testing

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

Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing

Genetic analysis of a case with Al Kaissi syndrome and a literature review

Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype

Analysis of a case with heterozygous 14q12 deletion and FOXG1 gene-related disease

hnRNP A1 antagonizes cellular senescence and senescence‐associated secretory phenotype via regulation of SIRT1 mRNA stability

Acetylation of FOXM1 is essential for its transactivation and tumor growth stimulation

The value of re-sampling for patients who had failed non-invasive prenatal testing due to low cell-free fetal DNA fraction

SIRT6 delays cellular senescence by promoting p27Kip1 ubiquitin-proteasome degradation

Non-invasive prenatal detection of ocutaneous albinism type I based on cfDNA barcode-enabled single-molecule test

Calorie restriction upregulated sirtuin 1 by attenuating its ubiquitin degradation in cancer cells

Results of non-invasive prenatal testing for 2473 women with twin pregnancy

Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome

Suchergebnisse filtern