List of works by John Rendu

"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".

scientific article published on 11 December 2017

ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy

scientific article published on 27 December 2019

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

scientific article published on 29 September 2020

Familial deep cavitating state with a glutathione metabolism defect

scientific article published on 09 November 2019

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.

scientific article published on December 2016

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella

scientific article

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