Search filters

List of works by Sarah J Beecroft

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

scientific article published on 11 February 2021

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

scientific article published on 01 February 2020

Cylindrical spirals in two families: Clinical and genetic investigations

scientific article published on 25 December 2019

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

scientific article published on 05 May 2017

Genetics of neuromuscular fetal akinesia in the genomics era

article

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.

scientific article

Recessive MYH7-related myopathy in two families

scientific article published on 12 April 2019

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

scientific article published on 09 March 2020

Paulina is supported by:

About Paulina

Help