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Last Updated: 09/18/2022

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Found 14 publications

Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.

Summary: Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.

Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review.

Summary: Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review.

Central control malfunction in Wolfram syndrome: Report of one case of difficult weaning.

Summary: Central control malfunction in Wolfram syndrome: Report of one case of difficult weaning.

A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay.

Summary: A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay.

Phenotypic and Genetic Heterogeneity in a Thai Glucokinase MODY Family Reveals the Complexity of Young-Onset Diabetes.

Summary: Phenotypic and Genetic Heterogeneity in a Thai Glucokinase MODY Family Reveals the Complexity of Young-Onset Diabetes.

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.

Summary: Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.

Summary: A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.

Summary: Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.

Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.

Summary: Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.

Summary: A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.

Summary: Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.

Monogenic diabetes: a gateway to precision medicine in diabetes.

Summary: Monogenic diabetes: a gateway to precision medicine in diabetes.
Showing 1-12 of 14

Last Updated: 09/18/2022