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

21 views / New

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

25 views

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

256 views

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

 Factsheets / 255 views

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

274 views

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

 Learning Resources / 259 views

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

 Patient Groups / 251 views

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

 Patient Groups / 301 views

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

 Patient Groups / 436 views

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

 Learning Resources / 331 views

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

 Patient Groups / 624 views / Popular

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

416 views

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

291 views

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

 Patient Groups / 445 views

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

 Learning Resources / 423 views

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

 Learning Resources /  UK / 546 views / Popular

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

 Patient Groups / 458 views

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

 Patient Groups / 441 views

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

 Learning Resources /  UK / 543 views / Popular

The Fragile X Society aims to improve the lives of those affected by Fragile X...

 Patient Groups /  UK / 632 views / Popular

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