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Items: 2

Select item 48236411.

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability

Mauricio A. Sáez, Juana Fernández-Rodríguez, Catia Moutinho, Jose V. Sanchez-Mut, Antonio Gomez, Enrique Vidal, Paolo Petazzi, Karolina Szczesna, Paula Lopez-Serra, Mario Lucariello, Patricia Lorden, Raul Delgado-Morales, Olga J. de la Caridad, Dori Huertas, Josep L. Gelpí, Modesto Orozco, Adriana López-Doriga, Montserrat Milà, Luís A. Perez-Jurado, Mercedes Pineda, Judith Armstrong, Conxi Lázaro, Manel Esteller

Genet Med. 2016 Apr; 18(4): 378–385. Published online 2015 Jul 16. doi: 10.1038/gim.2015.100

PMCID:: PMC4823641

Abstract Article PDF–2.7M

Select item 45323722.

Novel somatic and germline mutations in intracranial germ cell tumors

Linghua Wang, Shigeru Yamaguchi, Matthew D. Burstein, Keita Terashima, Kyle Chang, Ho-Keung Ng, Hideo Nakamura, Zongxiao He, Harshavardhan Doddapaneni, Lora Lewis, Mark Wang, Tomonari Suzuki, Ryo Nishikawa, Atsushi Natsume, Shunsuke Terasaka, Robert Dauser, William Whitehead, Adesina Adekunle, Jiayi Sun, Yi Qiao, Gábor Marth, Donna M. Muzny, Richard A. Gibbs, Suzanne M. Leal, David A. Wheeler, Ching C. Lau

Nature. Author manuscript; available in PMC 2015 Aug 11.

Published in final edited form as: Nature. 2014 Jul 10; 511(7508): 241–245. Published online 2014 Jun 4. doi: 10.1038/nature13296