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NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H. Van Bergen NJ, et al. Among authors: daubeney p. Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310. Brain. 2019. PMID: 30576410
Hypomelanosis of Ito and precocious puberty.
Daubeney PE, Pal K, Stanhope R. Daubeney PE, et al. Eur J Pediatr. 1993 Sep;152(9):715-6. doi: 10.1007/BF01953982. Eur J Pediatr. 1993. PMID: 8223798
Recurrent Stevens-Johnson syndrome.
Daubeney PE, Scopes JW. Daubeney PE, et al. J R Soc Med. 1991 Mar;84(3):168. doi: 10.1177/014107689108400319. J R Soc Med. 1991. PMID: 2013900 Free PMC article. No abstract available.
Risk factors at delivery and the need for skilled resuscitation.
Kroll L, Twohey L, Daubeney PE, Lynch D, Ducker DA. Kroll L, et al. Among authors: daubeney pe. Eur J Obstet Gynecol Reprod Biol. 1994 Jun 30;55(3):175-7. doi: 10.1016/0028-2243(94)90034-5. Eur J Obstet Gynecol Reprod Biol. 1994. PMID: 7958161 Clinical Trial.
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.
Rea G, Homfray T, Till J, Roses-Noguer F, Buchan RJ, Wilkinson S, Wilk A, Walsh R, John S, McKee S, Stewart FJ, Murday V, Taylor RW, Ashworth M, Baksi AJ, Daubeney P, Prasad S, Barton PJR, Cook SA, Ware JS. Rea G, et al. Among authors: daubeney p. Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001271. doi: 10.1101/mcs.a001271. Cold Spring Harb Mol Case Stud. 2017. PMID: 28050600 Free PMC article.
104 results