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Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
J Clin Endocrinol Metab. 2021 Sep 27;106(10):2915-2937. doi: 10.1210/clinem/dgab431.
J Clin Endocrinol Metab. 2021.
PMID: 34125233
Free PMC article.
An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().
Chitayat D, Shannon P, Uster T, Nezarati MM, Schnur RE, Bhoj EJ.
Chitayat D, et al. Among authors: uster t.
Am J Med Genet A. 2018 Sep;176(9):2041-2043. doi: 10.1002/ajmg.a.40360. Epub 2018 Aug 2.
Am J Med Genet A. 2018.
PMID: 30070761
No abstract available.
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Fetal Macrocephaly: A Novel Sonographic Finding in Congenital Myotonic Dystrophy.
Shinar S, Balakumar P, Shah V, Chong K, Uster T, Chitayat D.
Shinar S, et al. Among authors: uster t.
AJP Rep. 2020 Jul;10(3):e294-e299. doi: 10.1055/s-0040-1716742. Epub 2020 Sep 23.
AJP Rep. 2020.
PMID: 33133763
Free PMC article.
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Fetal ventriculomegaly secondary to isolated large choroid plexus cysts: prenatal findings and postnatal outcome.
Fong K, Chong K, Toi A, Uster T, Blaser S, Chitayat D.
Fong K, et al. Among authors: uster t.
Prenat Diagn. 2011 Apr;31(4):395-400. doi: 10.1002/pd.2703. Epub 2011 Feb 16.
Prenat Diagn. 2011.
PMID: 21328578
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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, Saitsu H.
Kato M, et al. Among authors: uster t.
Epilepsia. 2013 Jul;54(7):1282-7. doi: 10.1111/epi.12200. Epub 2013 Apr 26.
Epilepsia. 2013.
PMID: 23621294
Free article.
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Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Götz M, Robertson SP.
Cappello S, et al. Among authors: uster t.
Nat Genet. 2013 Nov;45(11):1300-8. doi: 10.1038/ng.2765. Epub 2013 Sep 22.
Nat Genet. 2013.
PMID: 24056717
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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Schwarze U, Cundy T, Pyott SM, Christiansen HE, Hegde MR, Bank RA, Pals G, Ankala A, Conneely K, Seaver L, Yandow SM, Raney E, Babovic-Vuksanovic D, Stoler J, Ben-Neriah Z, Segel R, Lieberman S, Siderius L, Al-Aqeel A, Hannibal M, Hudgins L, McPherson E, Clemens M, Sussman MD, Steiner RD, Mahan J, Smith R, Anyane-Yeboa K, Wynn J, Chong K, Uster T, Aftimos S, Sutton VR, Davis EC, Kim LS, Weis MA, Eyre D, Byers PH.
Schwarze U, et al. Among authors: uster t.
Hum Mol Genet. 2013 Jan 1;22(1):1-17. doi: 10.1093/hmg/dds371. Epub 2012 Sep 4.
Hum Mol Genet. 2013.
PMID: 22949511
Free PMC article.
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