📣 Help Shape the Future of UKRI's Gateway to Research (GtR)

We're improving UKRI's Gateway to Research and are seeking your input! If you would be interested in being interviewed about the improvements we're making and to have your say about how we can make GtR more user-friendly, impactful, and effective for the Research and Innovation community, please email gateway@ukri.org.

A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome. (2018)

First Author: Roche EF

Attributed to: Enabling technologies funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1111/cen.13827

PubMed Identifier: 30086211

Publication URI: http://europepmc.org/abstract/MED/30086211

Type: Journal Article/Review

Volume: 89

Parent Publication: Clinical endocrinology

Issue: 6

ISSN: 0300-0664