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Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.
Slattery SM, Perez IA, Ceccherini I, Chen ML, Kurek KC, Yap KL, Keens TG, Khaytin I, Ballard HA, Sokol EA, Mittal A, Rand CM, Weese-Mayer DE. Slattery SM, et al. Among authors: yap kl. Clin Auton Res. 2023 Jun;33(3):231-249. doi: 10.1007/s10286-022-00908-8. Epub 2022 Nov 20. Clin Auton Res. 2023. PMID: 36403185 Review.
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
Zhou A, Rand CM, Hockney SM, Niewijk G, Reineke P, Speare V, Berry-Kravis EM, Zhou L, Jennings LJ, Yu M, Ceccherini I, Bachetti T, Pennock M, Yap KL, Weese-Mayer DE. Zhou A, et al. Among authors: yap kl. Genet Med. 2021 Sep;23(9):1656-1663. doi: 10.1038/s41436-021-01178-x. Epub 2021 May 6. Genet Med. 2021. PMID: 33958749 Free article.
Primary Biphasic Hepatic Sarcoma in DICER1 Syndrome.
See SC, Wadhwani NR, Yap KL, Arva NC. See SC, et al. Among authors: yap kl. Pediatr Dev Pathol. 2021 Sep-Oct;24(5):484-488. doi: 10.1177/10935266211008443. Epub 2021 Apr 19. Pediatr Dev Pathol. 2021. PMID: 33872107
Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
Khan RS, Pahl E, Dellefave-Castillo L, Rychlik K, Ing A, Yap KL, Brew C, Johnston JR, McNally EM, Webster G. Khan RS, et al. Among authors: yap kl. J Am Heart Assoc. 2022 Jan 4;11(1):e022854. doi: 10.1161/JAHA.121.022854. Epub 2021 Dec 22. J Am Heart Assoc. 2022. PMID: 34935411 Free PMC article.
Genomic Autopsy of Sudden Deaths in Young Individuals.
Webster G, Puckelwartz MJ, Pesce LL, Dellefave-Castillo LM, Vanoye CG, Potet F, Page P, Kearns SD, Pottinger T, White S, Arunkumar P, Olson R, Kofman A, Ibrahim N, Ing A, Brew C, Yap KL, Kadri S, George AL Jr, McNally EM. Webster G, et al. Among authors: yap kl. JAMA Cardiol. 2021 Nov 1;6(11):1247-1256. doi: 10.1001/jamacardio.2021.2789. JAMA Cardiol. 2021. PMID: 34379075 Free PMC article.
105 results