UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.143-143, Article 143

2019

Volltextzugriff (PDF)

Adrenal insufficiency in a child with MELAS syndrome

Brain & development (Tokyo. 1979), 2014-11, Vol.36 (10), p.924-927

2014

Volltextzugriff (PDF)

Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients

Pediatrics and neonatology, 2018-08, Vol.59 (4), p.397-403

2018

Volltextzugriff (PDF)

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population

Molecular genetics and metabolism reports, 2020-03, Vol.22, p.100548, Article 100548

2020

Volltextzugriff (PDF)

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia

Genetics Research, 2022, Vol.2022, p.5870092-7

2022

Volltextzugriff (PDF)

Childhood interstitial lung disease: The end of a diagnostic odyssey

Annals of the Academy of Medicine, Singapore, 2022-10, Vol.51 (10), p.651-652

2022

Volltextzugriff (PDF)

Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease) with a Novel Mutation : A Malaysian Experience

Case reports in neurological medicine, 2014-01, Vol.2014 (2014), p.1-6

2014

Volltextzugriff (PDF)

Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia

Clinical biochemistry, 2021-12, Vol.98, p.48-53

2021

Volltextzugriff (PDF)

Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene

Clinical genetics, 2024-02, Vol.105 (2), p.228-230

2024

Volltextzugriff (PDF)

Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Molecular genetics and metabolism, 2023-08, Vol.139 (4), p.107647-107647, Article 107647

2023

Volltextzugriff (PDF)

Methanolic Extract of Clinacanthus nutans Exerts Antinociceptive Activity via the Opioid/Nitric Oxide-Mediated, but cGMP-Independent, Pathways

Evidence-based complementary and alternative medicine, 2016-01, Vol.2016 (2016), p.1-11

2016

Volltextzugriff (PDF)

Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation

Journal of pediatric genetics (Birmingham, Ala.), 2019-03, Vol.8 (1), p.015-019

2019

Volltextzugriff (PDF)

Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma

Molecular vision, 2015-10, Vol.21, p.1185-1190

2015

Volltextzugriff (PDF)

Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients

European journal of pediatrics, 2016-03, Vol.175 (3), p.339-346

2016

Volltextzugriff (PDF)

Foetal 2:1 atrioventricular block in a patient with Timothy syndrome (LQT8) (RCDD code: VI-1B-1.2)

Journal of rare cardiovascular diseases, 2019, Vol.4 (2)

2019

Volltextzugriff (PDF)

Performance comparison of EasyFix G26 and HYDRASYS 2 SCAN for the detection of serum monoclonal proteins

Journal of clinical laboratory analysis, 2020-06, Vol.34 (6), p.e23254-n/a

2020

Volltextzugriff (PDF)

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

BioMed research international, 2016-01, Vol.2016 (2016), p.1-5

2016

Volltextzugriff (PDF)

Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia

Cerebellum & ataxias, 2020-08, Vol.7 (1), p.1-11, Article 11

2020

Volltextzugriff (PDF)

Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability

Malaysian journal of pathology, 2017-08, Vol.39 (2), p.99-106

2017

Volltextzugriff (PDF)

Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance

Malaysian journal of pathology, 2016-12, Vol.38 (3), p.305-310

2016

Volltextzugriff (PDF)

Mutations in mitochondrial NADH dehydrogenase subunit 1 (mtND1) gene in colorectal carcinoma

Malaysian journal of pathology, 2010-12, Vol.32 (2), p.103-110

2010

Volltextzugriff (PDF)

SHORT Syndrome : An End to the Diagnostic Odyssey

Malaysian Journal of Paediatrics and Child Health, 2021-10, Vol.27 (2), p.23-27

2021

Volltextzugriff (PDF)

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population

Molecular genetics and metabolism reports, 2020, Vol.22, p.100548-100548

2020

Volltextzugriff (PDF)

1 – 25 von 26

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(22)
Mit Volltextzugriff
(25)

Publikationsform

Artikel
(24)
Berichte
(2)

Sprache

Englisch
(26)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

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

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

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Adrenal insufficiency in a child with MELAS syndrome

Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia

Childhood interstitial lung disease: The end of a diagnostic odyssey

Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease) with a Novel Mutation : A Malaysian Experience

Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia

Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene

Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Methanolic Extract of Clinacanthus nutans Exerts Antinociceptive Activity via the Opioid/Nitric Oxide-Mediated, but cGMP-Independent, Pathways

Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation

Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma

Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients

Foetal 2:1 atrioventricular block in a patient with Timothy syndrome (LQT8) (RCDD code: VI-1B-1.2)

Performance comparison of EasyFix G26 and HYDRASYS 2 SCAN for the detection of serum monoclonal proteins

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

Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia

Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability

Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance

Mutations in mitochondrial NADH dehydrogenase subunit 1 (mtND1) gene in colorectal carcinoma

SHORT Syndrome : An End to the Diagnostic Odyssey

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population

Suchergebnisse filtern