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The Neurofibromatosis Association, trading as Nerve Tumours UK, funds a unique Specialist Support Network to...

 Patient Groups / 249 views

We are a national patient-based information and support charity. Predominantly we provide resources for patients,...

373 views

CHAMP1 UK is a charity who provide information, support and advice for individuals affected by...

456 views

The Children’s Hyperinsulinism Charity (1165562) Our Charity was set up in February 2016 after a...

612 views / Popular

Fact sheet on 'what is CMT' and 'what are the symptoms of CMT', produced by...

 Factsheets / 598 views / Popular

We run a Genetic Counsellor-led Helpline for those affected by a genetic condition and their...

546 views / Popular

Self-management toolkit Mast Cell Action are delighted to be able to share their self-management resource,...

 Learning Resources / 541 views / Popular

RACC – UK is led by an enthusiastic and motivated Board of Trustees with a...

 Patient Groups / 591 views / Popular

Alström Syndrome UK (ASUK) is a charity who provide information, support and advice for individuals...

 Patient Groups / 622 views / Popular

The Rare Diseases Society Nepal is the umbrella organisation for the rare disease patients of...

 Patient Groups / 770 views / Popular

In-depth characterisation of a cohort of individuals with missense and loss-of- function variants disrupting FOXP2...

 Learning Resources / 581 views / Popular

CJD is one of a group of rare and invariably fatal diseases called prion diseases,...

 Patient Groups / 1024 views / Popular

PEM Friends is a patient led group for those suffering from the rare bullous diseases...

722 views / Popular

We are constantly developing medical and psychological information in relation to vascular malformations in multiple...

562 views / Popular

A UK-registered charity, AMEND is a patient group providing information and support services to families...

 Patient Groups / 724 views / Popular

Clinical Pearls: An interactive body map to help you manage the complexities associated with FOP,...

 Learning Resources / 676 views / Popular

This module provides an overview of genetic haemochromatosis, including the signs, symptoms, diagnosis, treatment, and...

 Learning Resources /  UK / 911 views / Popular

The Loeys-Dietz Syndrome Foundation Canada is a Canadian charitable organization dedicated to the promotion of...

 Patient Groups / 858 views / Popular

We are the only organisation in the UK & Ireland dedicated to improving the lives...

 Patient Groups / 830 views / Popular

A brief description of Fragile X Syndrome: how it is caused, its effects, diagnostic tests,...

 Learning Resources /  UK / 792 views / Popular

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