UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 606

Sortiert nach

Ursodeoxycholic acid administration did not reduce susceptibility to SARS‐CoV‐2 infection in children

Liver international, 2023-09, Vol.43 (9), p.1950-1954

2023

Volltextzugriff (PDF)

A Molecular Mechanism Underlying Genotype‐Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations

Hepatology (Baltimore, Md.), 2020-07, Vol.72 (1), p.213-229

2020

Volltextzugriff (PDF)

Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low‐Gamma‐Glutamyltransferase Cholestasis

Hepatology (Baltimore, Md.), 2020-10, Vol.72 (4), p.1461-1468

2020

Volltextzugriff (PDF)

Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ‐glutamyltransferase cholestasis

Hepatology (Baltimore, Md.), 2017-05, Vol.65 (5), p.1655-1669

2017

Volltextzugriff (PDF)

Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization

Liver international, 2020-05, Vol.40 (5), p.1142-1150

2020

Volltextzugriff (PDF)

Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features

Frontiers in genetics, 2021-05, Vol.12, p.658786-658786

2021

Volltextzugriff (PDF)

Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty

Journal of human genetics, 2020-04, Vol.65 (4), p.387-396

2020

Volltextzugriff (PDF)

TJP2 hepatobiliary disorders: Novel variants and clinical diversity

Human mutation, 2020-02, Vol.41 (2), p.502-511

2020

Volltextzugriff (PDF)

NBAS disease: 14 new patients, a recurrent mutation, and genotype–phenotype correlation among 24 Chinese patients

Hepatology research, 2020-11, Vol.50 (11), p.1306-1315

2020

Volltextzugriff (PDF)

Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis

Journal of cellular physiology, 2022-06, Vol.237 (6), p.2713-2723

2022

Volltextzugriff (PDF)

Heat shock protein family A member 8 is a prognostic marker for bladder cancer: Evidences based on experiments and machine learning

Journal of cellular and molecular medicine, 2023-12, Vol.27 (24), p.3995-4008

2023

Volltextzugriff (PDF)

NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.171-171, Article 171

2024

Volltextzugriff (PDF)

Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients

Liver international, 2022-08, Vol.42 (8), p.1836-1848

2022

Volltextzugriff (PDF)

Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study

PloS one, 2014-01, Vol.9 (1), p.e86168

2014

Volltextzugriff (PDF)

ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression

Liver international, 2020-11, Vol.40 (11), p.2788-2796

2020

Volltextzugriff (PDF)

MYO5B‐associated diseases: Novel liver‐related variants and genotype‐phenotype correlation

Liver international, 2022-02, Vol.42 (2), p.402-411

2022

Volltextzugriff (PDF)

Novel missense mutation in VPS33B is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome

Human mutation, 2019-12, Vol.40 (12), p.2247-2257

2019

Volltextzugriff (PDF)

Abnormal Bilirubin Metabolism in Patients With Sodium Taurocholate Cotransporting Polypeptide Deficiency

Journal of pediatric gastroenterology and nutrition, 2020-11, Vol.71 (5), p.e138-e141

2020

Volltextzugriff (PDF)

Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications

BMC pediatrics, 2019-01, Vol.19 (1), p.18-18, Article 18

2019

Volltextzugriff (PDF)

TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy

Frontiers in genetics, 2022-03, Vol.13, p.833495-833495

2022

Volltextzugriff (PDF)

Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry

Journal of pediatric gastroenterology and nutrition, 2017-11, Vol.65 (5), p.561-568

2017

Volltextzugriff (PDF)

Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations

Liver international, 2018-09, Vol.38 (9), p.1676-1685

2018

Volltextzugriff (PDF)

Anemia following zinc treatment for Wilson's disease: a case report and literature review

BMC gastroenterology, 2019-07, Vol.19 (1), p.120-120, Article 120

2019

Volltextzugriff (PDF)

Indirect Z‑Scheme BiOI/g‑C3N4 Photocatalysts with Enhanced Photoreduction CO2 Activity under Visible Light Irradiation

ACS applied materials & interfaces, 2016-02, Vol.8 (6), p.3765-3775

2016

Volltextzugriff (PDF)

1 – 25 von 606

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(455)
Mit Volltextzugriff
(547)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(323)
Life Sciences & Biomedicine
(148)
Physical Sciences
(121)
Humans
(113)
Technology
(106)
Male
(64)
Chemistry
(62)
Female
(62)
Engineering
(55)
Physics
(51)
Mutation
(48)
Infant
(44)
Gastroenterology & Hepatology
(42)
Materials Science
(40)
Exact Sciences And Technology
(38)
Animals
(37)
Materials Science, Multidisciplinary
(35)
Child
(33)
Cholestasis
(32)
Infant, Newborn
(28)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(6)

Menü

Weitere Dienste

Einstellungen

Ursodeoxycholic acid administration did not reduce susceptibility to SARS‐CoV‐2 infection in children

A Molecular Mechanism Underlying Genotype‐Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations

Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low‐Gamma‐Glutamyltransferase Cholestasis

Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ‐glutamyltransferase cholestasis

Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization

Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features

Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty

TJP2 hepatobiliary disorders: Novel variants and clinical diversity

NBAS disease: 14 new patients, a recurrent mutation, and genotype–phenotype correlation among 24 Chinese patients

Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis

Heat shock protein family A member 8 is a prognostic marker for bladder cancer: Evidences based on experiments and machine learning

NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death

Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients

Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study

ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression

MYO5B‐associated diseases: Novel liver‐related variants and genotype‐phenotype correlation

Novel missense mutation in VPS33B is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome

Abnormal Bilirubin Metabolism in Patients With Sodium Taurocholate Cotransporting Polypeptide Deficiency

Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications

Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity

TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy

Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry

Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations

Anemia following zinc treatment for Wilson's disease: a case report and literature review

Indirect Z‑Scheme BiOI/g‑C3N4 Photocatalysts with Enhanced Photoreduction CO2 Activity under Visible Light Irradiation

Suchergebnisse filtern