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641 results

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Page 1
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: hay e. 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.
[No title available]
[No authors listed] [No authors listed] PMID: 35851257
Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.
Pickwick C, Callewaert B, van Dijk F, Harris J, Wakeling E, Hay E, Yeo M, Chakrapani A, Baptista J, Moore S, Yoong M, Chatterjee F, Ghali N. Pickwick C, et al. Among authors: hay e. Clin Dysmorphol. 2022 Apr 1;31(2):66-70. doi: 10.1097/MCD.0000000000000404. Clin Dysmorphol. 2022. PMID: 34954732 No abstract available.
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Natera-de Benito D, Jurgens JA, Yeung A, Zaharieva IT, Manzur A, DiTroia SP, Di Gioia SA, Pais L, Pini V, Barry BJ, Chan WM, Elder JE, Christodoulou J, Hay E, England EM, Munot P, Hunter DG, Feng L, Ledoux D, O'Donnell-Luria A, Phadke R, Engle EC, Sarkozy A, Muntoni F. Natera-de Benito D, et al. Among authors: hay e. Hum Mutat. 2022 Apr;43(4):487-498. doi: 10.1002/humu.24333. Epub 2022 Feb 3. Hum Mutat. 2022. PMID: 35077597 Free PMC article.
Treatment of chronic macular edema with acetazolamide.
Cox SN, Hay E, Bird AC. Cox SN, et al. Among authors: hay e. Arch Ophthalmol. 1988 Sep;106(9):1190-5. doi: 10.1001/archopht.1988.01060140350030. Arch Ophthalmol. 1988. PMID: 3415543
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
Maher ER, Adlard J, Barwell J, Brady AF, Brennan P, Cook J, Crawford GS, Dabir T, Davidson R, Dyer R, Harrison R, Forde C, Halliday D, Hanson H, Hay E, Higgs J, Jones M, Lalloo F, Miedzybrodzka Z, Ong KR, Pelz F, Ruddy D, Snape K, Whitworth J, Sandford RN. Maher ER, et al. Among authors: hay e. Br J Cancer. 2022 May;126(9):1339-1345. doi: 10.1038/s41416-022-01724-7. Epub 2022 Feb 19. Br J Cancer. 2022. PMID: 35184155 Free PMC article.
641 results