Judith Melki
4PUBLICATIONS
4CO-AUTHORS
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Publications (4)
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|Jul 11, 2023
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.Yline Capri, Lucas Bourmance, Céline Dupont
|Apr 20, 2023
Biallelic <i>NPR1</i> loss of function variants are responsible for neonatal systemic hypertension.Yline Capri, Theresa Kwon, Olivia Boyer
|Apr 06, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.Annie Laquerriere, Dana Jaber, Emanuela Abiusi
|Sep 15, 2020
De novo mutations of <i>SCN1A</i> are responsible for arthrogryposis broadening the <i>SCN1A</i>-related phenotypes.Dana Jaber, Cyril Gitiaux, Sophie Blesson
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