UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 51

Sortiert nach

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.84-84, Article 84

2018

Volltextzugriff (PDF)

Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1799-1809

2018

Volltextzugriff (PDF)

Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis

Scientific reports, 2019-07, Vol.9 (1), p.10755-9, Article 10755

2019

Volltextzugriff (PDF)

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)

International journal of molecular sciences, 2019-12, Vol.21 (1), p.114

2019

Volltextzugriff (PDF)

The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature

Journal of the Formosan Medical Association, 2022-03, Vol.121 (3), p.712-717

2022

Volltextzugriff (PDF)

Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome

Drug design, development and therapy, 2022, Vol.16, p.143-154

2022

Volltextzugriff (PDF)

Functional independence of Taiwanese children with Down syndrome

Developmental medicine and child neurology, 2016-05, Vol.58 (5), p.502-507

2016

Volltextzugriff (PDF)

Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan

Medicina (Kaunas, Lithuania), 2021-12, Vol.58 (1), p.15

2021

Volltextzugriff (PDF)

Functional independence of Taiwanese children with Prader–Willi syndrome

American journal of medical genetics. Part A, 2018-06, Vol.176 (6), p.1309-1314

2018

Volltextzugriff (PDF)

Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis

Diagnostics (Basel), 2021-08, Vol.11 (9), p.1583

2021

Volltextzugriff (PDF)

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100768, Article 100768

2021

Volltextzugriff (PDF)

Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan

Children (Basel), 2021-11, Vol.8 (11), p.952

2021

Volltextzugriff (PDF)

Blood Pressure Reactivity and Recovery to Anger Recall in Hypertensive Patients with Type D Personality

Acta Cardiologica Sinica, 2018-09, Vol.34 (5), p.417-423

2018

Volltextzugriff (PDF)

Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan

Journal of personalized medicine, 2022-05, Vol.12 (5), p.817

2022

Volltextzugriff (PDF)

Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans

Diagnostics (Basel), 2020-10, Vol.10 (10), p.854

2020

Volltextzugriff (PDF)

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome

Journal of personalized medicine, 2021-10, Vol.11 (11), p.1066

2021

Volltextzugriff (PDF)

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan

Diagnostics (Basel), 2019-10, Vol.9 (4), p.140

2019

Volltextzugriff (PDF)

Functional independence of Taiwanese patients with mucopolysaccharidoses

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e790-n/a

2019

Volltextzugriff (PDF)

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome

Journal of personalized medicine, 2021-11, Vol.11 (11), p.1197

2021

Volltextzugriff (PDF)

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012

Orphanet journal of rare diseases, 2016-06, Vol.11 (1), p.85-85, Article 85

2016

Volltextzugriff (PDF)

Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses

International journal of medical sciences, 2021-01, Vol.18 (15), p.3373-3379

2021

Volltextzugriff (PDF)

Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan

Children (Basel, Switzerland), 2021, Vol.8 (11)

2021

Volltextzugriff (PDF)

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

Molecular genetics and metabolism reports, 2021, Vol.27, p.100768-100768

2021

Volltextzugriff (PDF)

Context‐specific roles of diphthamide deficiency in hepatocellular carcinogenesis

The Journal of pathology, 2022-10, Vol.258 (2), p.149-163

2022

Volltextzugriff (PDF)

Breast Cancer with Increased Drug Resistance, Invasion Ability, and Cancer Stem Cell Properties through Metabolism Reprogramming

International journal of molecular sciences, 2022-10, Vol.23 (21), p.12875

2022

Volltextzugriff (PDF)

1 – 25 von 51

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(44)
Mit Volltextzugriff
(49)

Publikationsform

Artikel
(49)
Berichte
(2)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period

Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)

The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature

Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome

Functional independence of Taiwanese children with Down syndrome

Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan

Functional independence of Taiwanese children with Prader–Willi syndrome

Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan

Blood Pressure Reactivity and Recovery to Anger Recall in Hypertensive Patients with Type D Personality

Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan

Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan

Functional independence of Taiwanese patients with mucopolysaccharidoses

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012

Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses

Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

Context‐specific roles of diphthamide deficiency in hepatocellular carcinogenesis

Breast Cancer with Increased Drug Resistance, Invasion Ability, and Cancer Stem Cell Properties through Metabolism Reprogramming

Suchergebnisse filtern