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LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Szafranski P, Kośmider E, Liu Q, Karolak JA, Currie L, Parkash S, Kahler SG, Roeder E, Littlejohn RO, DeNapoli TS, Shardonofsky FR, Henderson C, Powers G, Poisson V, Bérubé D, Oligny L, Michaud JL, Janssens S, De Coen K, Van Dorpe J, Dheedene A, Harting MT, Weaver MD, Khan AM, Tatevian N, Wambach J, Gibbs KA, Popek E, Gambin A, Stankiewicz P. Szafranski P, et al. Among authors: khan am. Hum Mutat. 2018 Dec;39(12):1916-1925. doi: 10.1002/humu.23608. Epub 2018 Aug 22. Hum Mutat. 2018. PMID: 30084155 Free PMC article.
Cornelia de Lange syndrome and congenital diaphragmatic hernia.
Gupta VS, Khan AM, Ebanks AH, Lally PA, Lally KP, Harting MT; Congenital Diaphragmatic Hernia Study Group. Gupta VS, et al. Among authors: khan am. J Pediatr Surg. 2021 Apr;56(4):697-699. doi: 10.1016/j.jpedsurg.2020.06.003. Epub 2020 Jun 11. J Pediatr Surg. 2021. PMID: 32762940
The Effect of Comprehensive Medical Care on the Long-Term Outcomes of Children Discharged from the NICU with Tracheostomy.
De Jesus-Rojas W, Mosquera RA, Samuels C, Eapen J, Gonzales T, Harris T, McKay S, Boricha F, Pedroza C, Aneji C, Khan A, Jon C, McBeth K, Stark J, Yadav A, Tyson JE. De Jesus-Rojas W, et al. Open Respir Med J. 2018 Jul 31;12:39-49. doi: 10.2174/1874306401812010039. eCollection 2018. Open Respir Med J. 2018. PMID: 30197702 Free PMC article.
1,116 results