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Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med. 2021 Jul;23(7):1202-1210. doi: 10.1038/s41436-021-01119-8. Epub 2021 Mar 5.
Genet Med. 2021.
PMID: 33674768
Free PMC article.
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
Green C, Ghali N, Akilapa R, Angwin C, Baker D, Bartlett M, Bowen J, Brady AF, Brock J, Chamberlain E, Cheema H, McConnell V, Crookes R, Kazkaz H, Johnson D, Pope FM, Vandersteen A, Sobey G, van Dijk FS.
Green C, et al. Among authors: akilapa r.
Genet Med. 2020 Oct;22(10):1576-1582. doi: 10.1038/s41436-020-0850-1. Epub 2020 Jun 23.
Genet Med. 2020.
PMID: 32572181
Free article.
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C.
Zawerton A, et al. Among authors: akilapa r.
Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3.
Genet Med. 2020.
PMID: 31578471
Free PMC article.
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The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M.
Vezyroglou A, et al. Among authors: akilapa r.
Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18.
Neurology. 2022.
PMID: 36192182
Free PMC article.
Review.
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Clinical report: inherited deletion of chromosome 12q21.31q21.32 associated with a distinct phenotype and intellectual disability.
Akilapa RS, Smith K, Balasubramanian M.
Akilapa RS, et al.
Clin Dysmorphol. 2015 Oct;24(4):151-5. doi: 10.1097/MCD.0000000000000096.
Clin Dysmorphol. 2015.
PMID: 26267847
No abstract available.
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The development of inherited cardiac conditions services: current position and future perspectives.
Alway T, Bastiaenen R, Pantazis A, Robert L, Akilapa R, Whitaker J, Page SP, Carr-White G.
Alway T, et al. Among authors: akilapa r.
Br Med Bull. 2024 Feb 23:ldae003. doi: 10.1093/bmb/ldae003. Online ahead of print.
Br Med Bull. 2024.
PMID: 38400770
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