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395 results

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Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
Harding BN, Moccia A, Drunat S, Soukarieh O, Tubeuf H, Chitty LS, Verloes A, Gressens P, El Ghouzzi V, Joriot S, Di Cunto F, Martins A, Passemard S, Bielas SL. Harding BN, et al. Am J Hum Genet. 2016 Aug 4;99(2):511-20. doi: 10.1016/j.ajhg.2016.07.003. Epub 2016 Jul 21. Am J Hum Genet. 2016. PMID: 27453579 Free PMC article.
Diagnostic accuracy of postmortem MRI for musculoskeletal abnormalities in fetuses and children.
Arthurs OJ, Thayyil S, Addison S, Wade A, Jones R, Norman W, Scott R, Robertson NJ, Chitty LS, Taylor AM, Sebire NJ, Offiah AC; Magnetic Resonance Imaging Autopsy Study (MaRIAS) Collaborative Group. Arthurs OJ, et al. Prenat Diagn. 2014 Dec;34(13):1254-61. doi: 10.1002/pd.4460. Epub 2014 Aug 6. Prenat Diagn. 2014. PMID: 25043483 Free article. Clinical Trial.
Diagnostic accuracy of post-mortem MRI for thoracic abnormalities in fetuses and children.
Arthurs OJ, Thayyil S, Olsen OE, Addison S, Wade A, Jones R, Norman W, Scott RJ, Robertson NJ, Taylor AM, Chitty LS, Sebire NJ, Owens CM; Magnetic Resonance Imaging Autopsy Study (MaRIAS) Collaborative Group. Arthurs OJ, et al. Eur Radiol. 2014 Nov;24(11):2876-84. doi: 10.1007/s00330-014-3313-8. Epub 2014 Aug 31. Eur Radiol. 2014. PMID: 25173624 Free PMC article.
GATA3 haplo-insufficiency causes human HDR syndrome.
Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K. Van Esch H, et al. Among authors: harding b. Nature. 2000 Jul 27;406(6794):419-22. doi: 10.1038/35019088. Nature. 2000. PMID: 10935639
The Neuropathology of MIRAGE Syndrome.
Viaene AN, Harding BN. Viaene AN, et al. J Neuropathol Exp Neurol. 2020 Apr 1;79(4):458-462. doi: 10.1093/jnen/nlaa009. J Neuropathol Exp Neurol. 2020. PMID: 32106287
Characterization of mutations in patients with multiple endocrine neoplasia type 1.
Bassett JH, Forbes SA, Pannett AA, Lloyd SE, Christie PT, Wooding C, Harding B, Besser GM, Edwards CR, Monson JP, Sampson J, Wass JA, Wheeler MH, Thakker RV. Bassett JH, et al. Among authors: harding b. Am J Hum Genet. 1998 Feb;62(2):232-44. doi: 10.1086/301729. Am J Hum Genet. 1998. PMID: 9463336 Free PMC article.
Hemihypertrophy, hemimegalencephaly, and polydactyly.
Reardon W, Harding B, Winter RM, Baraitser M. Reardon W, et al. Among authors: harding b. Am J Med Genet. 1996 Dec 11;66(2):144-9. doi: 10.1002/(SICI)1096-8628(19961211)66:2<144::AID-AJMG4>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8958320
395 results