Suchergebnisse - "Kym M Boycott"

PubPharm (4)

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

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

3

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

4

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

1
[1]