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Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Am J Hum Genet. 2017 Sep 7;101(3):428-440. doi: 10.1016/j.ajhg.2017.07.010. Epub 2017 Aug 17.
Am J Hum Genet. 2017.
PMID: 28823707
Free PMC article.
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
Marduel M, Ouguerram K, Serre V, Bonnefont-Rousselot D, Marques-Pinheiro A, Erik Berge K, Devillers M, Luc G, Lecerf JM, Tosolini L, Erlich D, Peloso GM, Stitziel N, Nitchké P, Jaïs JP; French Research Network on ADH; Abifadel M, Kathiresan S, Leren TP, Rabès JP, Boileau C, Varret M.
Marduel M, et al. Among authors: nitchke p.
Hum Mutat. 2013 Jan;34(1):83-7. doi: 10.1002/humu.22215. Epub 2012 Oct 11.
Hum Mutat. 2013.
PMID: 22949395
Free PMC article.
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Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.
Chopra M, Caswell R, Barcia G, Rondeau S, Jonard L, Nitchké P, Amram D, Bellaiche ML, Abadie V, Parodi M, Denoyelle F, Hattersley A, Bole C, Lyonnet S, Marlin S.
Chopra M, et al. Among authors: nitchke p.
Eur J Hum Genet. 2022 Aug;30(8):960-966. doi: 10.1038/s41431-022-01118-6. Epub 2022 May 20.
Eur J Hum Genet. 2022.
PMID: 35590056
Free PMC article.
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