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Page 1
Did you mean deville c[au] (264 results)?
Osteogenesis imperfecta.
Chan E, DeVile C, Ratnamma VS. Chan E, et al. Among authors: devile c. BJA Educ. 2023 May;23(5):182-188. doi: 10.1016/j.bjae.2023.01.005. Epub 2023 Feb 24. BJA Educ. 2023. PMID: 37124171 Free PMC article. Review. No abstract available.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR; Undiagnosed Diseases Network; Westerfield M, De Matteis MA, Lee B. Marom R, et al. Among authors: devile c. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26. Am J Hum Genet. 2021. PMID: 34450031 Free PMC article.
Neonatal epileptic encephalopathy.
Clayton PT, Surtees RA, DeVile C, Hyland K, Heales SJ. Clayton PT, et al. Among authors: devile c. Lancet. 2003 May 10;361(9369):1614. doi: 10.1016/s0140-6736(03)13312-0. Lancet. 2003. PMID: 12747882 No abstract available.
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken WL, Falabella M, McKittrick C, Pizzamiglio C, Ellmers R, Eggleton K, Woodward CE, Patel Y, Labrum R; Genomics England Research Consortium; Phadke R, Reilly MM, DeVile C, Sarkozy A, Footitt E, Davison J, Rahman S, Houlden H, Bugiardini E, Quinlivan R, Hanna MG, Vandrovcova J, Pitceathly RDS. Macken WL, et al. Among authors: devile c. Nat Commun. 2022 Nov 7;13(1):6324. doi: 10.1038/s41467-022-32908-7. Nat Commun. 2022. PMID: 36344503 Free PMC article.
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.
Durkin A, DeVile C, Arundel P, Bull M, Walsh J, Bishop NJ, Hupin E, Parekh S, Nadarajah R, Offiah AC, Calder A, Brock J, Baker D, Balasubramanian M. Durkin A, et al. Among authors: devile c. J Med Genet. 2022 Aug;59(8):810-816. doi: 10.1136/jmedgenet-2021-107942. Epub 2021 Aug 30. J Med Genet. 2022. PMID: 34462290 Free article. Review.
Rabies policy.
DeVile CP. DeVile CP. Vet Rec. 1994 Sep 10;135(11):263. doi: 10.1136/vr.135.11.263-a. Vet Rec. 1994. PMID: 7810052 No abstract available.
Bilateral giant retinal tears in Osteogenesis Imperfecta.
Scollo P, Snead MP, Richards AJ, Pollitt R, DeVile C. Scollo P, et al. Among authors: devile c. BMC Med Genet. 2018 Jan 12;19(1):8. doi: 10.1186/s12881-018-0521-0. BMC Med Genet. 2018. PMID: 29329516 Free PMC article.
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.
Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB. Rajan DS, et al. Among authors: devile c. Front Cell Dev Biol. 2022 Feb 28;10:783762. doi: 10.3389/fcell.2022.783762. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35295849 Free PMC article.
Diagnostic algorithm for children presenting with epilepsia partialis continua.
Surana S, Rossor T, Hassell J, Boyd S, D'Arco F, Aylett S, Bhate S, Carr L, Das K, DeVile C, Eltze C, Hemingway C, Kaliakatsos M, O'Callaghan F, Prabhakar P, Robinson R, Varadkar S, Helen Cross J, Hacohen Y. Surana S, et al. Among authors: devile c. Epilepsia. 2020 Oct;61(10):2224-2233. doi: 10.1111/epi.16650. Epub 2020 Sep 2. Epilepsia. 2020. PMID: 32875551
49 results