Suchergebnisse - "Kym M Boycott"

PubPharm (9)

1

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

in: Nature Communications | 2018

von Erfan Aref-Eshghi | Eric G. Bend | Rebecca L. Hood | +24

2

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

in: Orphanet Journal of Rare Diseases | 2017

von Jessica L. Zambonin | Allison Bellomo | Hilla Ben-Pazi | +20

3

When One Diagnosis Is Not Enough

enthalten in: The New England journal of medicine | 2017

von Kym M Boycott | A Micheil Innes

4

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

enthalten in: European journal of human genetics | 2017

von Hanns Lochmüller | Yann Le Cam | Anneliene H Jonker | +7

5

Yunis-Varón syndrome caused by biallelic VAC14 mutations

enthalten in: European journal of human genetics | 2017

von Matthew A Lines | Yoko Ito | Kristin D Kernohan | +13

6

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

enthalten in: European journal of human genetics | 2017

von Hanns Lochmüller | Josep Torrent i Farnell | Yann Le Cam | +8

7

Fragile X testing as a second-tier test

enthalten in: Genetics in medicine | 2017

von Taila Hartley | Ryan Potter | Lauren Badalato | +3

8

Consent Codes: Upholding Standard Data Use Conditions.

in: PLoS Genetics | 2016

von Stephanie O M Dyke | Anthony A Philippakis | Jordi Rambla De Argila | +14

9

Annual review of medicine Volume 65 (2014)

Erschienen: 2014

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