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Editorial: New Therapeutic Options for Rare Diseases.
Meyer S, Yeh EA, Brunner J, Semler O, Gropman A. Meyer S, et al. Front Pediatr. 2022 Jan 24;9:832395. doi: 10.3389/fped.2021.832395. eCollection 2021. Front Pediatr. 2022. PMID: 35141184 Free PMC article. No abstract available.
MR Imaging Findings in Xp21.2 Duplication Syndrome.
Whitehead MT, Helman G, Gropman AL. Whitehead MT, et al. Among authors: gropman al. J Radiol Case Rep. 2016 May 31;10(5):9-14. doi: 10.3941/jrcr.v10i5.2563. eCollection 2016 May. J Radiol Case Rep. 2016. PMID: 27761175 Free PMC article.
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P; Undiagnosed Diseases Network; Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ. Barish S, et al. Hum Mol Genet. 2022 Aug 25;31(17):2934-2950. doi: 10.1093/hmg/ddac085. Hum Mol Genet. 2022. PMID: 35405010 Free PMC article.
180 results