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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: pie j. 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
Thyroxine in unextracted urine.
Orden I, Pie J, Juste MG, Marsella JA, Blasco C. Orden I, et al. Among authors: pie j. Acta Endocrinol (Copenh). 1987 Apr;114(4):503-8. doi: 10.1530/acta.0.1140503. Acta Endocrinol (Copenh). 1987. PMID: 3577582
Effects of chronic hypoxia on kidney function.
Martínez-Ballarín E, Pié J, Martínez-Berganza A. Martínez-Ballarín E, et al. Among authors: pie j. Rev Esp Fisiol. 1986 Sep;42(3):319-22. Rev Esp Fisiol. 1986. PMID: 3797776
[Hematic parameters in chronic hypoxemia].
Elboj B, Martínez-Ballarín E, Blasco G, Pié J, Giner A, García JJ, Pié A. Elboj B, et al. Among authors: pie a, pie j. Rev Esp Fisiol. 1993 Mar;49(1):59-64. Rev Esp Fisiol. 1993. PMID: 8378579 Spanish.
The diagnosis of mitochondrial HMG-CoA synthase deficiency.
Zschocke J, Penzien JM, Bielen R, Casals N, Aledo R, Pié J, Hoffmann GF, Hegardt FG, Mayatepek E. Zschocke J, et al. Among authors: pie j. J Pediatr. 2002 Jun;140(6):778-80. doi: 10.1067/mpd.2002.123854. J Pediatr. 2002. PMID: 12072887
109 results