UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 173

Sortiert nach

Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet-Biedl Syndrome Type I (BBS1) due to Missense Mutation

Frontiers in genetics, 2022-05, Vol.13, p.849562

2022

Link zum Volltext

Verfügbarkeit prüfen

Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene

Frontiers in genetics, 2022-08, Vol.13

2022

Link zum Volltext

Verfügbarkeit prüfen

Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family

Frontiers in genetics, 2022-08, Vol.13

2022

Link zum Volltext

Verfügbarkeit prüfen

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia

Frontiers in pediatrics, 2023-01, Vol.10, p.1062900-1062900

2023

Link zum Volltext

Verfügbarkeit prüfen

Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening

Molecular cytogenetics, 2022-09, Vol.15 (1), p.1-39, Article 39

2022

Link zum Volltext

Verfügbarkeit prüfen

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis

Frontiers in pediatrics, 2023-10, Vol.11

2023

Link zum Volltext

Verfügbarkeit prüfen

Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele

Frontiers in genetics, 2022-10, Vol.13

2022

Link zum Volltext

Verfügbarkeit prüfen

Corrigendum: Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product

Frontiers in pediatrics, 2022-04, Vol.10, p.823860-823860

2022

Link zum Volltext

Verfügbarkeit prüfen

Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report

Molecular genetics & genomic medicine, 2024-07, Vol.12 (7), p.e2492-n/a

2024

Link zum Volltext

Verfügbarkeit prüfen

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing

Frontiers in genetics, 2019-09, Vol.10

2019

Link zum Volltext

Verfügbarkeit prüfen

Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product

Frontiers in pediatrics, 2021-10, Vol.9, p.748641

2021

Link zum Volltext

Verfügbarkeit prüfen

Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping

Npj genomic medicine, 2020-08, Vol.5 (1), p.31, Article 31

2020

Link zum Volltext

Verfügbarkeit prüfen

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Frontiers in genetics, 2019-11, Vol.10

2019

Link zum Volltext

Verfügbarkeit prüfen

Plant phenolic extracts for the quality protection of frying oil during deep frying: Sources, effects, and mechanisms

Grain & oil science and technology (Online), 2023-09, Vol.6 (3), p.148-161

2023

Link zum Volltext

Verfügbarkeit prüfen

Non-invasive prenatal screening for Emanuel syndrome

Molecular cytogenetics, 2020-03, Vol.13 (1), p.9-9, Article 9

2020

Link zum Volltext

Verfügbarkeit prüfen

Validation and depth evaluation of recurrent neural network‐based ultra low‐pass genome sequencing for the detection of absence of heterozygosity: A multi‐centre study of 409 cases

Clinical and translational medicine, 2024-07, Vol.14 (7), p.e1752-n/a

2024

Link zum Volltext

Verfügbarkeit prüfen

Genetic analysis of a child with Sotos syndrome

Zhonghua yi xue yi chuan xue za zhi, 2020-02, Vol.37 (2), p.127

2020

Link zum Volltext

Verfügbarkeit prüfen

Genetic diagnosis of a fetus with Dandy-Walker syndrome

Zhonghua yi xue yi chuan xue za zhi, 2020-01, Vol.37 (1), p.8

2020

Link zum Volltext

Verfügbarkeit prüfen

Single nucleotide polymorphism microarray in prenatal diagnosis of fetuses with absent nasal bone

Zhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban, 2019-06, Vol.48 (4), p.414-419

2019

Link zum Volltext

Verfügbarkeit prüfen

Single‐cell landscape analysis reveals systematic senescence in mammalian Down syndrome

Clinical and translational medicine, 2023-07, Vol.13 (7), p.e1310-n/a

2023

Link zum Volltext

Verfügbarkeit prüfen

Enhanced catalytic performance of Cu-doped MnFe2O4 magnetic ferrites: Tetracycline hydrochloride attacked by superoxide radicals efficiently in a strong alkaline environment

Chemosphere (Oxford), 2022-06, Vol.297, p.134154-134154, Article 134154

2022

Link zum Volltext

Verfügbarkeit prüfen

Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation

Zhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban, 2019-06, Vol.48 (4), p.420-428

2019

Link zum Volltext

Verfügbarkeit prüfen

Single nucleotide polymorphism-array in genetic analysis of chorionic villi from early spontaneous miscarriages

Zhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban, 2017-05, Vol.46 (3), p.262-267

2017

Link zum Volltext

Verfügbarkeit prüfen

The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies

Molecular cytogenetics, 2018-12, Vol.11 (1), p.59-59, Article 59

2018

Link zum Volltext

Verfügbarkeit prüfen

HSD17B12 dosage insufficiency induced premature ovarian insufficiency in humans and mice

Clinical and translational medicine, 2022-02, Vol.12 (2), p.e737-n/a

2022

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 173

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(140)
Mit Volltextzugriff
(169)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(108)
Life Sciences & Biomedicine
(68)
Humans
(32)
Technology
(25)
Physical Sciences
(22)
Animals
(20)
Female
(20)
Male
(17)
Genetics & Heredity
(16)
Engineering
(15)
Gene Expression
(13)
Chemistry
(11)
Adult
(9)
Mice
(9)
Science & Technology - Other Topics
(9)
Materials Science
(8)
Materials Science, Multidisciplinary
(8)
Analysis
(7)
Cancer
(7)
Chemistry, Multidisciplinary
(7)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(3)
... seit 90 Tagen
(13)

Menü

Weitere Dienste

Einstellungen

Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet-Biedl Syndrome Type I (BBS1) due to Missense Mutation

Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene

Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia

Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis

Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele

Corrigendum: Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product

Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing

Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product

Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Plant phenolic extracts for the quality protection of frying oil during deep frying: Sources, effects, and mechanisms

Non-invasive prenatal screening for Emanuel syndrome

Validation and depth evaluation of recurrent neural network‐based ultra low‐pass genome sequencing for the detection of absence of heterozygosity: A multi‐centre study of 409 cases

Genetic analysis of a child with Sotos syndrome

Genetic diagnosis of a fetus with Dandy-Walker syndrome

Single nucleotide polymorphism microarray in prenatal diagnosis of fetuses with absent nasal bone

Single‐cell landscape analysis reveals systematic senescence in mammalian Down syndrome

Enhanced catalytic performance of Cu-doped MnFe2O4 magnetic ferrites: Tetracycline hydrochloride attacked by superoxide radicals efficiently in a strong alkaline environment

Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation

Single nucleotide polymorphism-array in genetic analysis of chorionic villi from early spontaneous miscarriages

The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies

HSD17B12 dosage insufficiency induced premature ovarian insufficiency in humans and mice

Suchergebnisse filtern