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...

PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2012-03, Vol.159B (2), p.183-191

2012

Volltextzugriff (PDF)

BMP4 was associated with NSCL/P in an Asian population

PloS one, 2012-04, Vol.7 (4), p.e35347-e35347

2012

Volltextzugriff (PDF)

Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population

Birth defects research. A Clinical and molecular teratology, 2015-10, Vol.103 (10), p.857-862

2015

Volltextzugriff (PDF)

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

Lancet neurology, 2018-07, Vol.17 (7), p.597-608

2018

Volltextzugriff (PDF)

Increased Rab35 expression is a potential biomarker and implicated in the pathogenesis of Parkinson's disease

Oncotarget, 2016-08, Vol.7 (34), p.54215-54227

2016

Volltextzugriff (PDF)

Joint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an Asian population using data from an International Cleft Consortium

PloS one, 2014-10, Vol.9 (10), p.e109038

2014

Volltextzugriff (PDF)

The FGF and FGFR Gene Family and Risk of Cleft Lip with or Without Cleft Palate

The Cleft palate-craniofacial journal, 2013-01, Vol.50 (1), p.96-103

2013

Volltextzugriff (PDF)

Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate

Birth defects research. A Clinical and molecular teratology, 2012-02, Vol.94 (2), p.76-83

2012

Volltextzugriff (PDF)

Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease

Journal of human genetics, 2013-11, Vol.58 (11), p.720-727

2013

Volltextzugriff (PDF)

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

Brain (London, England : 1878), 2023-04, Vol.146 (4), p.1496-1510

2023

Volltextzugriff (PDF)

Neuronal intranuclear inclusion disease: Two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia

Movement disorders, 2010-07, Vol.25 (9), p.1274-1279

2010

Volltextzugriff (PDF)

Neuroprotective effects of aldehyde dehydrogenase 2 activation in rotenone-induced cellular and animal models of parkinsonism

Experimental neurology, 2015-01, Vol.263, p.244-253

2015

Volltextzugriff (PDF)

NOTCH1 mutations as prognostic marker in oral squamous cell carcinoma

Pathology, research and practice, 2021-07, Vol.223, p.153474-153474, Article 153474

2021

Volltextzugriff (PDF)

Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy

Acta Cardiologica Sinica, 2019-11, Vol.35 (6), p.571-584

2019

Volltextzugriff (PDF)

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts

Genetics (Austin), 2014-07, Vol.197 (3), p.1039-1044

2014

Volltextzugriff (PDF)

Neurofibromatosis 2 with peripheral neuropathies: Electrophysiological, pathological and genetic studies of a Taiwanese family

Neuropathology, 2010-10, Vol.30 (5), p.515-523

2010

Volltextzugriff (PDF)

X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts

European journal of oral sciences, 2013-04, Vol.121 (2), p.63-68

2013

Volltextzugriff (PDF)

Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations

Genetic epidemiology, 2008-09, Vol.32 (6), p.505-512

2008

Volltextzugriff (PDF)

High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-06, Vol.153B (4), p.903-908

2010

Volltextzugriff (PDF)

Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2

Movement disorders, 2002-09, Vol.17 (5), p.1046-1051

2002

Volltextzugriff (PDF)

A comprehensive analysis of the association of common variants of ABCG2 with gout

Scientific reports, 2017-08, Vol.7 (1), p.9988-8, Article 9988

2017

Volltextzugriff (PDF)

SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management

The Journal of craniofacial surgery, 2018-09, Vol.29 (6), p.1601-1603

2018

Volltextzugriff (PDF)

1 – 25 von 103

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(96)
Mit Volltextzugriff
(95)

Publikationsform

Artikel
(102)
Dissertationen
(1)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency

BMP4 was associated with NSCL/P in an Asian population

Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

Increased Rab35 expression is a potential biomarker and implicated in the pathogenesis of Parkinson's disease

Joint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an Asian population using data from an International Cleft Consortium

The FGF and FGFR Gene Family and Risk of Cleft Lip with or Without Cleft Palate

Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate

Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

Neuronal intranuclear inclusion disease: Two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia

Neuroprotective effects of aldehyde dehydrogenase 2 activation in rotenone-induced cellular and animal models of parkinsonism

NOTCH1 mutations as prognostic marker in oral squamous cell carcinoma

Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts

Neurofibromatosis 2 with peripheral neuropathies: Electrophysiological, pathological and genetic studies of a Taiwanese family

X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts

Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations

High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia

Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2

Evidence for gene‐environment interaction in a genome wide study of nonsyndromic cleft palate

A comprehensive analysis of the association of common variants of ABCG2 with gout

SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management

Suchergebnisse filtern