Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene

Comparison of SGLT2 inhibitors vs. DPP4 inhibitors for patients with metabolic dysfunction associated fatty liver disease and diabetes mellitus.

Journal of endocrinological investigation·2023

In-process monitoring of a tissue-engineered oral mucosa fabricated on a micropatterned collagen scaffold: use of optical coherence tomography for quality control.

Heliyon·2022

Surgical resection of primary tumor in the extremities improves survival for metastatic soft-tissue sarcoma patients: a population-based study of the SEER database.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico·2021

Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes.

Diabetic medicine : a journal of the British Diabetic Association·2019

Estimation of glycaemic control in the past month using ratio of glycated albumin to HbA1c.

Diabetic medicine : a journal of the British Diabetic Association·2018

Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes.

Diabetic medicine : a journal of the British Diabetic Association·2017

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

Human molecular genetics·2026

PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors.

Human molecular genetics·2026

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Human molecular genetics·2026

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Human molecular genetics·2026

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Human molecular genetics·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

Flexible bioelectronic electrodes: From engineering strategies to cross-domain biomedical applications.

Biosensors & bioelectronics·2026

Long-Term Electrophysiologic Comorbidities After Anatomically Repaired Congenitally Corrected Transposition of the Great Arteries: Atrial Tachyarrhythmias.

JACC. Clinical electrophysiology·2026

Functional Substrate Mapping and Its Correlation With Ventricular Tachycardia Critical Sites: A Blinded Study.

JACC. Clinical electrophysiology·2026

Fine Ventricular Fibrillation Therapy Assurance Algorithm Failure From Low-Amplitude Far-Field Signals: Precision Sensing Strategy.

JACC. Case reports·2026

Efficient Interfacial Electron Modulation Coupled with Machine Learning for Intelligent Microfluidic Photoelectrochemical-Electrochromic Sensing of Tetracycline.

Analytical chemistry·2026

Engineering Multiscale Biohybrid Interfaces for Signal Sensing and Functional Regulation of Electronic Plants.

Advanced materials (Deerfield Beach, Fla.)·2026

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Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene

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Comparison of SGLT2 inhibitors vs. DPP4 inhibitors for patients with metabolic dysfunction associated fatty liver disease and diabetes mellitus.

In-process monitoring of a tissue-engineered oral mucosa fabricated on a micropatterned collagen scaffold: use of optical coherence tomography for quality control.

Surgical resection of primary tumor in the extremities improves survival for metastatic soft-tissue sarcoma patients: a population-based study of the SEER database.

Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes.

Estimation of glycaemic control in the past month using ratio of glycated albumin to HbA1c.

Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes.

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors.

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Flexible bioelectronic electrodes: From engineering strategies to cross-domain biomedical applications.

Long-Term Electrophysiologic Comorbidities After Anatomically Repaired Congenitally Corrected Transposition of the Great Arteries: Atrial Tachyarrhythmias.

Functional Substrate Mapping and Its Correlation With Ventricular Tachycardia Critical Sites: A Blinded Study.

Fine Ventricular Fibrillation Therapy Assurance Algorithm Failure From Low-Amplitude Far-Field Signals: Precision Sensing Strategy.

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Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene

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