4.1 Article

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary

Related references

Note: Only part of the references are listed.
Review Medicine, Research & Experimental

High-Throughput Assays to Assess the Functional Impact of Genetic Variants: A Road Towards Genomic-Driven Medicine

J. Ipe et al.

CTS-CLINICAL AND TRANSLATIONAL SCIENCE (2017)

Article Multidisciplinary Sciences

Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing

Pedro G. Ferreira et al.

SCIENTIFIC REPORTS (2016)

Article Endocrinology & Metabolism

Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort

Abdelhadi M. Habeb et al.

HORMONE RESEARCH IN PAEDIATRICS (2015)

Article Clinical Neurology

Early Neurodegeneration in the Brain of a Child Without Functional PKR-like Endoplasmic Reticulum Kinase

Julius Bruch et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2015)

Article Surgery

Liver, Pancreas and Kidney Transplantation for the Treatment of Wolcott-Rallison Syndrome

A. G. Tzakis et al.

AMERICAN JOURNAL OF TRANSPLANTATION (2015)

Article Pediatrics

Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome

Betul Ersoy et al.

EUROPEAN JOURNAL OF PEDIATRICS (2014)

Article Pediatrics

Short stature in child with early-onset diabetes

C. P. Hawkes et al.

EUROPEAN JOURNAL OF PEDIATRICS (2013)

Review Medicine, General & Internal

Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review

Abdelhadi M. Habeb

LIBYAN JOURNAL OF MEDICINE (2013)

Article Medical Laboratory Technology

Detection of internal tandem duplications in the FLT3 gene by different electrophoretic methods

Tamas Buban et al.

CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2012)

Article Biochemistry & Molecular Biology

Primer3-new capabilities and interfaces

Andreas Untergasser et al.

NUCLEIC ACIDS RESEARCH (2012)

Review Multidisciplinary Sciences

The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation

Peter Walter et al.

SCIENCE (2011)

Review Genetics & Heredity

Wolcott-Rallison syndrome

Cecile Julier et al.

ORPHANET JOURNAL OF RARE DISEASES (2010)

Article Endocrinology & Metabolism

Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families

Oscar Rubio-Cabezas et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome

G. Engelmann et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2008)

Article Biochemistry & Molecular Biology

Perk is essential for translational regulation and cell survival during the unfolded protein response

HP Harding et al.

MOLECULAR CELL (2000)