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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Among authors: grant pe. Am J Hum Genet. 2023 Mar 2;110(3):548. doi: 10.1016/j.ajhg.2023.02.010. Am J Hum Genet. 2023. PMID: 36868207 Free PMC article. No abstract available.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Among authors: grant pe. Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. Am J Hum Genet. 2023. PMID: 36528028 Free PMC article.
A catch up growth chart.
Landman J, Jackson A, Wheeler E, Grant P, Mcleod J. Landman J, et al. J Trop Pediatr. 1981 Feb;27(1):47-51. doi: 10.1093/tropej/27.1.47. J Trop Pediatr. 1981. PMID: 7218415 No abstract available.
Shape-aware Segmentation of the Placenta in BOLD Fetal MRI Time Series.
Abulnaga SM, Dey N, Young SI, Pan E, Hobgood KI, Wang CJ, Grant PE, Turk EA, Golland P. Abulnaga SM, et al. Among authors: grant pe. J Mach Learn Biomed Imaging. 2023 Dec;2(PIPPI 2022):527-546. doi: 10.59275/j.melba.2023-g3f8. J Mach Learn Biomed Imaging. 2023. PMID: 39469044 Free PMC article.
Whole-body hypothermia in mild neonatal encephalopathy: protocol for a multicentre phase III randomised controlled trial.
Garegrat R, Montaldo P, Burgod C, Pant S, Mazlan M, Palanisami B, Chakkarapani E, Woolfall K, Johnson S, Grant PE, Land S, Mahmoud M, Brady T, Cornelius V, Adams E, Dorling J, Aladangadi N, Fleming P, Pressler R, Shennan A, Petrou S, Soe A, Basset P, Shankaran S, Thayyil S. Garegrat R, et al. Among authors: grant pe. BMC Pediatr. 2024 Jul 18;24(1):460. doi: 10.1186/s12887-024-04935-4. BMC Pediatr. 2024. PMID: 39026197 Free PMC article.
328 results