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Diagnostic yield and treatment impact of whole‐genome sequencing in paediatric neurological disorders

Developmental medicine and child neurology, 2021-08, Vol.63 (8), p.934-938

2021

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Intrafamilial phenotypic variability in TBC1D24-TLDc homozygous pathogenic variant-related developmental and epileptic encephalopathy

Clinical neurology and neurosurgery, 2022-03, Vol.214, p.107142-107142, Article 107142

2022

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Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l‐amino acid decarboxylase deficiency

Human mutation, 2018-12, Vol.39 (12), p.2072-2082

2018

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Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children

Brain & development (Tokyo. 1979), 2020-05, Vol.42 (5), p.393-401

2020

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Clinico-Radiological Phenotype of UBTF c.628G>A Pathogenic Variant-Related Neurodegeneration in Childhood: A Case Report and Literature Review

Brain sciences, 2022-09, Vol.12 (9), p.1262

2022

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Prenatal brain disruption in isolated sulfite oxidase deficiency

Orphanet journal of rare diseases, 2017-06, Vol.12 (1), p.115-115, Article 115

2017

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Long-Term Outcome of Pediatric Patients with Anti-NMDA Receptor Encephalitis in a Single Center

Children (Basel), 2023-01, Vol.10 (2), p.182

2023

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Frasier Syndrome: A Rare Cause of Refractory Steroid-Resistant Nephrotic Syndrome

Children (Basel), 2021-08, Vol.8 (8), p.617

2021

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Early cardiac involvement in an infantile Sandhoff disease case with novel mutations

Brain & development (Tokyo. 1979), 2017-02, Vol.39 (2), p.171-176

2017

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Influence of Prolonged Storage Process, Pasteurization, and Heat Treatment on Biologically-active Human Milk Proteins

Pediatrics and neonatology, 2013-12, Vol.54 (6), p.360-366

2013

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Changes in Preterm Breast Milk Nutrient Content in the First Month

Pediatrics and neonatology, 2014-12, Vol.55 (6), p.449-454

2014

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Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia

Orphanet journal of rare diseases, 2015-11, Vol.10 (144), p.144-144, Article 144

2015

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Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation

Human genetics, 2023-08, Vol.142 (8), p.1029-1041

2023

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Impact of EGFR mutation detection methods on the efficacy of erlotinib in patients with advanced EGFR-wild type lung adenocarcinoma

PloS one, 2014-09, Vol.9 (9), p.e107160

2014

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Electroencephalographic features of patients with SCN1A-positive Dravet syndrome

Brain & development (Tokyo. 1979), 2015-06, Vol.37 (6), p.599-611

2015

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Respiratory presentation of patients infected with enterovirus D68 in Taiwan

Pediatrics and neonatology, 2020-04, Vol.61 (2), p.168-173

2020

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Stromal-derived factor-1 gene variations in pediatric patients with primary immune thrombocytopenia

European journal of haematology, 2013-01, Vol.90 (1), p.25-30

2013

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Good response to gefitinib in a lung adenocarcinoma harboring a heterozygous complex mutation of L833V and H835L in epidermal growth factor receptor gene

Journal of clinical oncology, 2011-06, Vol.29 (16), p.e468-e469

2011

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Cerebellar atrophy in genetic epileptic encephalopathies: A cohort study and a systematic review

Seizure (London, England), 2024-08, Vol.120, p.41-48

2024

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Leigh Syndrome: Clinical and Neuroimaging Follow-Up

Pediatric neurology, 2009-02, Vol.40 (2), p.88-93

2009

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Tyrosine Hydroxylase Deficiency in Taiwanese Infants

Pediatric neurology, 2012-02, Vol.46 (2), p.77-82

2012

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EGFR exon 19 in‐frame deletion and polymorphisms of DNA repair genes in never‐smoking female lung adenocarcinoma patients

International journal of cancer, 2013-01, Vol.132 (2), p.449-458

2013

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Epileptic Seizures in Infants and Children With Mitochondrial Diseases

Pediatric neurology, 2011-09, Vol.45 (3), p.169-174

2011

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Dynamic Plasma EGFR Mutation Status as a Predictor of EGFR-TKI Efficacy in Patients with EGFR-Mutant Lung Adenocarcinoma

Journal of thoracic oncology, 2015-04, Vol.10 (4), p.603-610

2015

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Clinical Manifestations in Children With Mitochondrial Diseases

Pediatric neurology, 2010-09, Vol.43 (3), p.183-189

2010

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Diagnostic yield and treatment impact of whole‐genome sequencing in paediatric neurological disorders

Intrafamilial phenotypic variability in TBC1D24-TLDc homozygous pathogenic variant-related developmental and epileptic encephalopathy

Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l‐amino acid decarboxylase deficiency

Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children

Clinico-Radiological Phenotype of UBTF c.628G>A Pathogenic Variant-Related Neurodegeneration in Childhood: A Case Report and Literature Review

Prenatal brain disruption in isolated sulfite oxidase deficiency

Long-Term Outcome of Pediatric Patients with Anti-NMDA Receptor Encephalitis in a Single Center

Frasier Syndrome: A Rare Cause of Refractory Steroid-Resistant Nephrotic Syndrome

Early cardiac involvement in an infantile Sandhoff disease case with novel mutations

Influence of Prolonged Storage Process, Pasteurization, and Heat Treatment on Biologically-active Human Milk Proteins

Changes in Preterm Breast Milk Nutrient Content in the First Month

Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia

Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation

Impact of EGFR mutation detection methods on the efficacy of erlotinib in patients with advanced EGFR-wild type lung adenocarcinoma

Electroencephalographic features of patients with SCN1A-positive Dravet syndrome

Respiratory presentation of patients infected with enterovirus D68 in Taiwan

Stromal-derived factor-1 gene variations in pediatric patients with primary immune thrombocytopenia

Good response to gefitinib in a lung adenocarcinoma harboring a heterozygous complex mutation of L833V and H835L in epidermal growth factor receptor gene

Cerebellar atrophy in genetic epileptic encephalopathies: A cohort study and a systematic review

Leigh Syndrome: Clinical and Neuroimaging Follow-Up

Tyrosine Hydroxylase Deficiency in Taiwanese Infants

EGFR exon 19 in‐frame deletion and polymorphisms of DNA repair genes in never‐smoking female lung adenocarcinoma patients

Epileptic Seizures in Infants and Children With Mitochondrial Diseases

Dynamic Plasma EGFR Mutation Status as a Predictor of EGFR-TKI Efficacy in Patients with EGFR-Mutant Lung Adenocarcinoma

Clinical Manifestations in Children With Mitochondrial Diseases

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