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Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
J Med Genet. 2018 Feb;55(2):122-130. doi: 10.1136/jmedgenet-2017-104827. Epub 2017 Nov 9.
J Med Genet. 2018.
PMID: 29122926
Free PMC article.
Forebrain cellular bioenergetics in neonatal mice.
Narchi H, Thachillath P, Souid AK.
Narchi H, et al. Among authors: thachillath p.
J Neonatal Perinatal Med. 2018;11(1):79-86. doi: 10.3233/NPM-181737.
J Neonatal Perinatal Med. 2018.
PMID: 29689747
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