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Journal Abstract Search
527 related items for PubMed ID: 20301283
1. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Deardorff MA, Noon SE, Krantz ID. ; 1993. PubMed ID: 20301283 [Abstract] [Full Text] [Related]
2. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Phelan K, Rogers RC, Boccuto L. ; 1993. PubMed ID: 20301377 [Abstract] [Full Text] [Related]
6. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. Hum Mutat; 2015 Apr; 36(4):454-62. PubMed ID: 25655089 [Abstract] [Full Text] [Related]
9. A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype. Wagner VF, Hillman PR, Britt AD, Ray JW, Farach LS. Am J Med Genet A; 2019 May; 179(5):852-856. PubMed ID: 30806031 [Abstract] [Full Text] [Related]
10. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Priolo M. ; 1993 May. PubMed ID: 39083629 [Abstract] [Full Text] [Related]
11. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Rauen KA. ; 1993 May. PubMed ID: 20301365 [Abstract] [Full Text] [Related]
16. Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS). Pimentel Campillo J, Corona Castillo D, Nunez M, Finke Abbott A, Pichardo J. Cureus; 2023 Jun; 15(6):e41119. PubMed ID: 37519569 [Abstract] [Full Text] [Related]
18. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Zarate YA, Bosanko K, Fish J. ; 1993 Jun. PubMed ID: 29023086 [Abstract] [Full Text] [Related]
19. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Goldstein A, Falk MJ. ; 1993 Jun. PubMed ID: 20301382 [Abstract] [Full Text] [Related]