U.S. flag

An official website of the United States government

Display Settings:

Format
Sort by

Send to:

Choose Destination

Links from OMIM

Items: 2

1.
Radha Desai, Ann E. Frazier, Romina Durigon, Harshil Patel, Aleck W. Jones, Ilaria Dalla Rosa, Nicole J. Lake, Alison G. Compton, Hayley S. Mountford, Elena J. Tucker, Alice L. R. Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P. van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M. Turner, P. Ian Andrews, Jan Smeitink, Johannes N. Spelbrink, Simon J. Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J. Holt, David R. Thorburn, Antonella Spinazzola
Brain. 2017 Jun; 140(6): 1595–1610. Published online 2017 May 24. doi: 10.1093/brain/awx094
PMCID:
PMC5445257
2.
Tamar Harel, Wan Hee Yoon, Caterina Garone, Shen Gu, Zeynep Coban-Akdemir, Mohammad K. Eldomery, Jennifer E. Posey, Shalini N. Jhangiani, Jill A. Rosenfeld, Megan T. Cho, Stephanie Fox, Marjorie Withers, Stephanie M. Brooks, Theodore Chiang, Lita Duraine, Serkan Erdin, Bo Yuan, Yunru Shao, Elie Moussallem, Costanza Lamperti, Maria A. Donati, Joshua D. Smith, Heather M. McLaughlin, Christine M. Eng, Magdalena Walkiewicz, Fan Xia, Tommaso Pippucci, Pamela Magini, Marco Seri, Massimo Zeviani, Michio Hirano, Jill V. Hunter, Myriam Srour, Stefano Zanigni, Richard Alan Lewis, Donna M. Muzny, Timothy E. Lotze, Eric Boerwinkle, Baylor-Hopkins Center for Mendelian Genomics, University of Washington Center for Mendelian Genomics, Richard A. Gibbs, Scott E. Hickey, Brett H. Graham, Yaping Yang, Daniela Buhas, Donna M. Martin, Lorraine Potocki, Claudio Graziano, Hugo J. Bellen, James R. Lupski
Am J Hum Genet. 2016 Oct 6; 99(4): 831–845. Published online 2016 Sep 15. doi: 10.1016/j.ajhg.2016.08.007
PMCID:
PMC5065660

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center