PMC Links for Nucleotide (Select 4200226) - PMC

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Items: 2

Select item 62328561.

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment

Zubair M Ahmed, Thomas J Jaworek, Gowri N Sarangdhar, Lili Zheng, Khitab Gul, Shaheen N Khan, Thomas B Friedman, Robert A Sisk, James R Bartles, Sheikh Riazuddin, Saima Riazuddin

J Med Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: J Med Genet. 2018 Jul; 55(7): 479–488. Published online 2018 Mar 23. doi: 10.1136/jmedgenet-2017-105221

PMCID:: PMC6232856

Article PDF–1.1M

Select item 37896692.

A Genome-Wide Investigation of Copy Number Variation in Patients with Sporadic Brain Arteriovenous Malformation

Nasrine Bendjilali, Helen Kim, Shantel Weinsheimer, Diana E. Guo, Pui-Yan Kwok, Jonathan G. Zaroff, Stephen Sidney, Michael T. Lawton, Charles E. McCulloch, Bobby P. C. Koeleman, Catharina J. M. Klijn, William L. Young, Ludmila Pawlikowska

PLoS One. 2013; 8(10): e71434. Published online 2013 Oct 3. doi: 10.1371/journal.pone.0071434