UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 193

Sortiert nach

Phase Separation of Disease-Associated SHP2 Mutants Underlies MAPK Hyperactivation

Cell, 2020-10, Vol.183 (2), p.490-502.e18

2020

Volltextzugriff (PDF)

Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients

Journal of medical genetics, 2024-01, Vol.61 (1), p.27

2024

Volltextzugriff (PDF)

Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China

Human mutation, 2022-05, Vol.43 (5), p.557-567

2022

Volltextzugriff (PDF)

The transcription factor Sox7 modulates endocardiac cushion formation contributed to atrioventricular septal defect through Wnt4/Bmp2 signaling

Cell death & disease, 2021-04, Vol.12 (4), p.393-393, Article 393

2021

Volltextzugriff (PDF)

KaryoXpert: An accurate chromosome segmentation and classification framework for karyotyping analysis without training with manually labeled metaphase-image mask annotations

Computers in biology and medicine, 2024-07, Vol.177, p.108601-108601, Article 108601

2024

Volltextzugriff (PDF)

RT‐PCR analysis of mRNA revealed the splice‐altering effect of rare intronic variants in monogenic disorders

Annals of human genetics, 2020-11, Vol.84 (6), p.456-462

2020

Volltextzugriff (PDF)

Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools

Clinical genetics, 2023-02, Vol.103 (2), p.190-199

2023

Volltextzugriff (PDF)

Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia

Journal of human genetics, 2017-06, Vol.62 (6), p.647-651

2017

Volltextzugriff (PDF)

De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β–catenin signaling

Human mutation, 2020-05, Vol.41 (5), p.1012-1024

2020

Volltextzugriff (PDF)

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

Human mutation, 2022-05, Vol.43 (5), p.568-581

2022

Volltextzugriff (PDF)

CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK‐Related Syndrome

Annals of neurology, 2023-12, Vol.94 (6), p.1136-1154

2023

Volltextzugriff (PDF)

Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann–Steiner syndrome

American journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.510-514

2017

Volltextzugriff (PDF)

A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses

World journal of urology, 2022-05, Vol.40 (5), p.1211-1216

2022

Volltextzugriff (PDF)

A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.335-12, Article 335

2020

Volltextzugriff (PDF)

Genome-wide detection of natural selection in African Americans pre- and post-admixture

Genome research, 2012-03, Vol.22 (3), p.519

2012

Volltextzugriff (PDF)

Gut microbiota and metabolic changes in children with idiopathic short stature

BMC pediatrics, 2024-07, Vol.24 (1), p.1-15, Article 468

2024

Volltextzugriff (PDF)

Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays

Journal of human genetics, 2021-04, Vol.66 (4), p.409-417

2021

Volltextzugriff (PDF)

The Association Between STAT4 rs7574865 Polymorphism and the Susceptibility of Autoimmune Thyroid Disease: A Meta-Analysis

Frontiers in genetics, 2019-01, Vol.9, p.708-708

2019

Volltextzugriff (PDF)

Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB

Journal of pediatric endocrinology & metabolism : JPEM, 2017-04, Vol.30 (4), p.463

2017

Volltextzugriff (PDF)

Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis

World journal of urology, 2021-07, Vol.39 (7), p.2759-2765

2021

Volltextzugriff (PDF)

A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment

Clinical rheumatology, 2022-03, Vol.41 (3), p.877-888

2022

Volltextzugriff (PDF)

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

BMC genomics, 2015-09, Vol.16 (1), p.701-701, Article 701

2015

Volltextzugriff (PDF)

Enhanced genome editing to ameliorate a genetic metabolic liver disease through co-delivery of adeno-associated virus receptor

Science China. Life sciences, 2022-04, Vol.65 (4), p.718-730

2022

Volltextzugriff (PDF)

Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants

Molecular genetics & genomic medicine, 2022-11, Vol.10 (11), p.e2067-n/a

2022

Volltextzugriff (PDF)

Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones

World journal of urology, 2019-08, Vol.37 (8), p.1713-1721

2019

Volltextzugriff (PDF)

1 – 25 von 193

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(172)
Mit Volltextzugriff
(182)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

Menü

Weitere Dienste

Einstellungen

Phase Separation of Disease-Associated SHP2 Mutants Underlies MAPK Hyperactivation

Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients

Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China

The transcription factor Sox7 modulates endocardiac cushion formation contributed to atrioventricular septal defect through Wnt4/Bmp2 signaling

KaryoXpert: An accurate chromosome segmentation and classification framework for karyotyping analysis without training with manually labeled metaphase-image mask annotations

RT‐PCR analysis of mRNA revealed the splice‐altering effect of rare intronic variants in monogenic disorders

Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools

Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia

De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β–catenin signaling

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK‐Related Syndrome

Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann–Steiner syndrome

A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses

A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Genome-wide detection of natural selection in African Americans pre- and post-admixture

Gut microbiota and metabolic changes in children with idiopathic short stature

Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays

The Association Between STAT4 rs7574865 Polymorphism and the Susceptibility of Autoimmune Thyroid Disease: A Meta-Analysis

Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB

Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis

A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

Enhanced genome editing to ameliorate a genetic metabolic liver disease through co-delivery of adeno-associated virus receptor

Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants

Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones

Suchergebnisse filtern