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Page 1
An animal model for maternal phenylketonuria.
Roux C, Rey F, Lyonnet S, Nizard S, Mulliez N, Munnich A. Roux C, et al. Among authors: nizard s. J Med Genet. 1991 Oct;28(10):718-9. doi: 10.1136/jmg.28.10.718. J Med Genet. 1991. PMID: 1941970 Free PMC article. No abstract available.
Refining the phenotype associated with biallelic DNAJC21 mutations.
D'Amours G, Lopes F, Gauthier J, Saillour V, Nassif C, Wynn R, Alos N, Leblanc T, Capri Y, Nizard S, Lemyre E, Michaud JL, Pelletier VA, Pastore YD, Soucy JF. D'Amours G, et al. Among authors: nizard s. Clin Genet. 2018 Aug;94(2):252-258. doi: 10.1111/cge.13370. Epub 2018 Jun 7. Clin Genet. 2018. PMID: 29700810
Renal lesions and pheochromocytoma in von Hippel-Lindau disease.
Richard S, Chauveau D, Chrétien Y, Beigelman C, Denys A, Fendler JP, Fromont G, Paraf F, Hélénon O, Nizard S, et al. Richard S, et al. Among authors: nizard s. Adv Nephrol Necker Hosp. 1994;23:1-27. Adv Nephrol Necker Hosp. 1994. PMID: 8154348 Review. No abstract available.
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, Nizard S, Fraser WD, Audibert F, Lemyre E, Rouleau GA, Hamdan FF, Kibar Z, Michaud JL. Boissel S, et al. Among authors: nizard s. Genet Med. 2018 Jul;20(7):745-753. doi: 10.1038/gim.2017.173. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261186 Free article.
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.
Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW. Uddin M, et al. Among authors: nizard s. Sci Rep. 2016 Jul 1;6:28663. doi: 10.1038/srep28663. Sci Rep. 2016. PMID: 27363808 Free PMC article.
18 results