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Page 1
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Sukalo M, et al. Among authors: richmond ej. Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24599544 Review.
Oblique facial clefts in Johanson-Blizzard syndrome.
Corona-Rivera JR, Zapata-Aldana E, Bobadilla-Morales L, Corona-Rivera A, Peña-Padilla C, Solis-Hernández E, Guzmán C, Richmond E, Zahl C, Zenker M, Sukalo M. Corona-Rivera JR, et al. Am J Med Genet A. 2016 Jun;170(6):1495-501. doi: 10.1002/ajmg.a.37630. Epub 2016 Mar 17. Am J Med Genet A. 2016. PMID: 26989884 Review.
A new approach to the diagnosis of short stature.
Bogarín R, Richmond E, Rogol AD. Bogarín R, et al. Minerva Pediatr. 2020 Aug;72(4):250-262. doi: 10.23736/S0026-4946.20.05835-1. Minerva Pediatr. 2020. PMID: 33045802 Review.
Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.
Gambineri E, Perroni L, Passerini L, Bianchi L, Doglioni C, Meschi F, Bonfanti R, Sznajer Y, Tommasini A, Lawitschka A, Junker A, Dunstheimer D, Heidemann PH, Cazzola G, Cipolli M, Friedrich W, Janic D, Azzi N, Richmond E, Vignola S, Barabino A, Chiumello G, Azzari C, Roncarolo MG, Bacchetta R. Gambineri E, et al. J Allergy Clin Immunol. 2008 Dec;122(6):1105-1112.e1. doi: 10.1016/j.jaci.2008.09.027. Epub 2008 Oct 25. J Allergy Clin Immunol. 2008. PMID: 18951619
Growth hormone deficiency in children.
Richmond EJ, Rogol AD. Richmond EJ, et al. Pituitary. 2008;11(2):115-20. doi: 10.1007/s11102-008-0105-7. Pituitary. 2008. PMID: 18425584 Review.
21 results