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Truncating mutations in APP cause a distinct neurological phenotype.
Klein S, Goldman A, Lee H, Ghahremani S, Bhakta V; UCLA Clinical Genomics Center; Nelson SF, Martinez-Agosto JA. Klein S, et al. Among authors: ghahremani s. Ann Neurol. 2016 Sep;80(3):456-60. doi: 10.1002/ana.24727. Epub 2016 Aug 4. Ann Neurol. 2016. PMID: 27422356 Free PMC article.
Phenotypic progression of skeletal anomalies in CLOVES syndrome.
Klein S, Stroberg A, Ghahremani S, Martinez-Agosto JA. Klein S, et al. Among authors: ghahremani s. Am J Med Genet A. 2012 Jul;158A(7):1690-5. doi: 10.1002/ajmg.a.35383. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628280
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K; UCLA Clinical Genomics Center; Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA. Mullegama SV, et al. Among authors: ghahremani s. Am J Med Genet A. 2017 May;173(5):1319-1327. doi: 10.1002/ajmg.a.38207. Epub 2017 Mar 11. Am J Med Genet A. 2017. PMID: 28296084 Free PMC article.
Osteochondral lesions in pediatric and adolescent patients.
Ghahremani S, Griggs R, Hall T, Motamedi K, Boechat MI. Ghahremani S, et al. Semin Musculoskelet Radiol. 2014 Nov;18(5):505-12. doi: 10.1055/s-0034-1389268. Epub 2014 Oct 28. Semin Musculoskelet Radiol. 2014. PMID: 25350829 Free article. Review.
41 results