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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

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Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis

Journal of biomedical science, 2018-10, Vol.25 (1), p.72-72, Article 72

2018

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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

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

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

2010

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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

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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

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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

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Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2

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

2002

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BMP4 was associated with NSCL/P in an Asian population

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

2012

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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

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ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population

Chinese medical journal, 2012-02, Vol.125 (3), p.476-480

2012

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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

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Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy

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

2019

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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

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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

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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

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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

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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

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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

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NOTCH1 mutations as prognostic marker in oral squamous cell carcinoma

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

2021

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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

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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

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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

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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

Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis

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

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

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

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

Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2

BMP4 was associated with NSCL/P in an Asian population

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

ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population

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

Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy

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

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

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

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

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

NOTCH1 mutations as prognostic marker in oral squamous cell carcinoma

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

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

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

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