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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: bruegger d. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
Elderly man presenting with asymptomatic hypercalcemia.
Nuckols DA, Tsue TT, Woodroof JM, Bruegger DE, Hoover LA. Nuckols DA, et al. Among authors: bruegger de. Am J Otolaryngol. 1998 Sep-Oct;19(5):311-5. doi: 10.1016/s0196-0709(98)90004-7. Am J Otolaryngol. 1998. PMID: 9758179 No abstract available.
Third branchial anomalies. Avoiding recurrences.
Edmonds JL, Girod DA, Woodroof JM, Bruegger DE. Edmonds JL, et al. Among authors: bruegger de. Arch Otolaryngol Head Neck Surg. 1997 Apr;123(4):438-41. doi: 10.1001/archotol.1997.01900040084013. Arch Otolaryngol Head Neck Surg. 1997. PMID: 9109795
57 results