Carolyn J. Tysoe

Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 08, 2022

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 28, 2021

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 25, 2020

Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant.

Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant.

Journal: American journal of ophthalmology

Published: March 19, 2020

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.

Journal: American journal of human genetics

Published: September 02, 2019

Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy.

Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy.

Journal: Clinical endocrinology

Published: September 24, 2018

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Journal: Prenatal diagnosis

Published: September 28, 2017

Functional and in silico assessment of MAX variants of unknown significance.

Functional and in silico assessment of MAX variants of unknown significance.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: January 23, 2015

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

Journal: American journal of medical genetics. Part A

Published: April 17, 2013

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

Journal: Rheumatology (Oxford, England)

Published: April 28, 2012

Showing 1-10 of 10

Last Updated: 09/26/2026