Suchergebnisse - "Kym M Boycott"

PubPharm (15)

1

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortResearch in context

in: EBioMedicine | 2024

von David Pellerin | Felix Heindl | Carlo Wilke | +14

2

RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report

in: Molecular Genetics & Genomic Medicine | 2023

von Aren E. Marshall | Stella K. MacDonald | Yijing Liang | +5

3

Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation

in: BMJ Open | 2022

von Deborah A Marshall | Francois Bernier | Christine Michaels-Igbokwe | +3

4

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

in: Orphanet Journal of Rare Diseases | 2022

von Lijia Huang | Jodi Warman-Chardon | Melissa T. Carter | +8

5

Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review

in: Child Neurology Open | 2021

von Daniel I. Weiman BSc | Meredith K. Gillespie MSc | Taila Hartley MSc | +6

6

The Deep Genome Project

in: Genome Biology | 2020

von K. C. Kent Lloyd | David J. Adams | Gareth Baynam | +41

7

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

8

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

9

When One Diagnosis Is Not Enough

enthalten in: The New England journal of medicine | 2017

von Kym M Boycott | A Micheil Innes

10

'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