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Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez AF, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea SH, Cormier-Daire V, Ferreira CR. Ehmke N, et al. Among authors: martinez af. Bone. 2020 Apr;133:115219. doi: 10.1016/j.bone.2019.115219. Epub 2020 Jan 7. Bone. 2020. PMID: 31923704 Free PMC article.
Molecular testing in holoprosencephaly.
Kruszka P, Martinez AF, Muenke M. Kruszka P, et al. Among authors: martinez af. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):187-193. doi: 10.1002/ajmg.c.31617. Epub 2018 May 17. Am J Med Genet C Semin Med Genet. 2018. PMID: 29771000 Free PMC article.
Neural Plasticity in Obesity and Psychiatric Disorders.
Arcos-Burgos M, Acosta MT, Martinez AF, Muenke M, Enriori PJ, Mastronardi CA. Arcos-Burgos M, et al. Among authors: martinez af. Neural Plast. 2016;2016:6053871. doi: 10.1155/2016/6053871. Epub 2016 Apr 7. Neural Plast. 2016. PMID: 27144034 Free PMC article. No abstract available.
88 results