Ju-li Lin

Taoyuan, TNQ, Taiwan

Last Updated: 09/26/2026

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Found 26 publications

Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing.

Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing.

Journal: Human molecular genetics

Published: October 07, 2025

Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale.

Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale.

Journal: Diagnostics (Basel, Switzerland)

Published: July 05, 2025

A Case of Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy in Taiwan: A 4-Year Follow-Up.

A Case of Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy in Taiwan: A 4-Year Follow-Up.

Journal: Case reports in medicine

Published: October 18, 2024

Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.

Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.

Journal: Diagnostics (Basel, Switzerland)

Published: July 29, 2024

Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.

Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.

Journal: EBioMedicine

Published: July 09, 2024

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

Journal: Diagnostics (Basel, Switzerland)

Published: March 29, 2024

Syndromic ciliopathy: a taiwanese single-center study.

Syndromic ciliopathy: a taiwanese single-center study.

Journal: BMC medical genomics

Published: October 12, 2023

Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.

Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.

Journal: In vivo (Athens, Greece)

Published: September 21, 2023

Primary biliary cholangitis with features of autoimmune hepatitis in a 19-year-old adolescent with 14q24.1q24.2 deletion: a case report.

Primary biliary cholangitis with features of autoimmune hepatitis in a 19-year-old adolescent with 14q24.1q24.2 deletion: a case report.

Journal: Frontiers in pediatrics

Published: August 20, 2023

Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia.

Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia.

Journal: Molecular genetics & genomic medicine

Published: December 31, 2022

Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019).

Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019).

Journal: Orphanet journal of rare diseases

Published: June 05, 2020

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses.

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses.

Journal: Diagnostics (Basel, Switzerland)

Published: August 23, 2019

Showing 1-12 of 26

Last Updated: 09/26/2026