UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 69

Sortiert nach

Xeroderma pigmentosum in a Malaysian child with identification of a novel homozygous nonsense mutation in XPC c.2167C>T

International journal of dermatology, 2022-09, Vol.61 (9), p.e324-e326

2022

Link zum Volltext

Verfügbarkeit prüfen

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Human mutation, 2021-01, Vol.42 (1), p.50-65

2021

Link zum Volltext

Verfügbarkeit prüfen

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

Journal of human genetics, 2020-09, Vol.65 (9), p.727-734

2020

Link zum Volltext

Verfügbarkeit prüfen

Rare disease in Malaysia: Challenges and solutions

PloS one, 2020-04, Vol.15 (4), p.e0230850-e0230850

2020

Link zum Volltext

Verfügbarkeit prüfen

Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1382-1391

2020

Link zum Volltext

Verfügbarkeit prüfen

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

Orphanet journal of rare diseases, 2023-08, Vol.18 (1), p.231-231, Article 231

2023

Link zum Volltext

Verfügbarkeit prüfen

Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series

Molecular genetics and metabolism reports, 2023-09, Vol.36, p.100991, Article 100991

2023

Link zum Volltext

Verfügbarkeit prüfen

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

Molecular genetics and metabolism reports, 2018-12, Vol.17, p.22-30

2018

Link zum Volltext

Verfügbarkeit prüfen

A Comparison of Self-evaluated Survey and Work Sampling Approach for Estimating Patient-care Unit Cost Multiplier in Genetic Nursing Activities

Asian Nursing Research, 2022, 16(3), , pp.170-179

2022

Link zum Volltext

Verfügbarkeit prüfen

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China

PloS one, 2013-09, Vol.8 (9), p.e74544

2013

Link zum Volltext

Verfügbarkeit prüfen

Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review

Journal Of Movement Disorders, 2022, 15(2), , pp.162-166

2022

Link zum Volltext

Verfügbarkeit prüfen

Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients

Genes & Genomics, 2019, 41(8), , pp.885-893

2019

Link zum Volltext

Verfügbarkeit prüfen

Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II

Molecular genetics and metabolism reports, 2017-09, Vol.12 (C), p.28-32

2017

Link zum Volltext

Verfügbarkeit prüfen

Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1

BioMed research international, 2016-01, Vol.2016, p.4074365-5

2016

Link zum Volltext

Verfügbarkeit prüfen

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations

Journal of human genetics, 2012-02, Vol.57 (2), p.145-152

2012

Link zum Volltext

Verfügbarkeit prüfen

Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy

Journal of human genetics, 2014-11, Vol.59 (11), p.593-597

2014

Link zum Volltext

Verfügbarkeit prüfen

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Journal of medical genetics, 2016-06, Vol.53 (6), p.403-418

2016

Link zum Volltext

Verfügbarkeit prüfen

Correction: Rare disease in Malaysia: Challenges and solutions

PloS one, 2022-08, Vol.17 (8), p.e0273939-e0273939

2022

Link zum Volltext

Verfügbarkeit prüfen

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

Molecular genetics and metabolism, 2020-11, Vol.131 (3), p.285-288

2020

Link zum Volltext

Verfügbarkeit prüfen

Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver Failure

Journal of pediatric gastroenterology and nutrition, 2011-01, Vol.52 (1), p.113-116

2011

Link zum Volltext

Verfügbarkeit prüfen

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region

Molecular genetics and metabolism, 2012-09, Vol.107 (1-2), p.136-144

2012

Link zum Volltext

Verfügbarkeit prüfen

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.173-173, Article 173

2014

Link zum Volltext

Verfügbarkeit prüfen

Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation

BMJ case reports, 2022-06, Vol.15 (6), p.e250360

2022

Link zum Volltext

Verfügbarkeit prüfen

Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges

Journal of pediatric endocrinology & metabolism : JPEM, 2016-09, Vol.29 (9), p.1031

2016

Link zum Volltext

Verfügbarkeit prüfen

Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency

Molecular genetics and metabolism reports, 2019-12, Vol.21, p.100525-100525, Article 100525

2019

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 69

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(59)
Mit Volltextzugriff
(68)

Publikationsform

Artikel
(64)
Berichte
(5)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Xeroderma pigmentosum in a Malaysian child with identification of a novel homozygous nonsense mutation in XPC c.2167C>T

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

Rare disease in Malaysia: Challenges and solutions

Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

A Comparison of Self-evaluated Survey and Work Sampling Approach for Estimating Patient-care Unit Cost Multiplier in Genetic Nursing Activities

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China

Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review

Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients

Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II

Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations

Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Correction: Rare disease in Malaysia: Challenges and solutions

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver Failure

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation

Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges

Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency

Suchergebnisse filtern