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The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 623 - 629
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Human molecular genetics, ISSN 0964-6906, 06/2019
Oculomotor synkinesis is the involuntary movement of the eyes or eyelids with a voluntary attempt at a different movement. The chemokine receptor CXCR4 and its... 
Journal Article
by Di Gioia, Silvio Alessandro and Connors, Samantha and Matsunami, Norisada and Cannavino, Jessica and Rose, Matthew F and Gilette, Nicole M and Artoni, Pietro and De Macena Sobreira, Nara Lygia and Chan, Wai-Man and Webb, Bryn D and Robson, Caroline D and Cheng, Long and Van Ryzin, Carol and Ramirez-Martinez, Andres and Mohassel, Payam and Leppert, Mark and Scholand, Mary Beth and Grunseich, Christopher and Ferreira, Carlos R and Hartman, Tyler and Hayes, Ian M and Morgan, Tim and Markie, David M and Fagiolini, Michela and Swift, Amy and Chines, Peter S and Speck-Martins, Carlos E and Collins, Francis S and Jabs, Ethylin Wang and Bönnemann, Carsten G and Olson, Eric N and Carey, John C and Robertson, Stephen P and Manoli, Irini and Engle, Elizabeth C and Andrews, Caroline V and Barry, Brenda J and Hunter, David G and Mackinnon, Sarah E and Shaaban, Sherin and Erazo, Monica and Frempong, Tamiesha and Hao, Ke and Naidich, Thomas P and Rucker, Janet C and Zhang, Zhongyang and Biesecker, Barbara B and Bonnycastle, Lori L and Brewer, Carmen C and Brooks, Brian P and Butman, John A and Chien, Wade W and Farrell, Kathleen and FitzGibbon, Edmond J and Gropman, Andrea L and Hutchinson, Elizabeth B and Jain, Minal S and King, Kelly A and Lehky, Tanya J and Lee, Janice and Liberton, Denise K and Narisu, Narisu and Paul, Scott M and Sadeghi, Neda and Snow, Joseph and Solomon, Beth and Summers, Angela and Toro, Camilo and Thurm, Audrey and Zalewski, Christopher K and Moebius Syndrome Res Consortium and Moebius Syndrome Research Consortium
Nature Communications, ISSN 2041-1723, 07/2017, Volume 8, Issue 1, pp. 16077 - 16077
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The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 770 - 776
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Journal Article
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Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2010, Volume 87, Issue 3, pp. 376 - 381
Retinitis pigmentosa (RP) is a degenerative disease of the retina leading to progressive loss of vision and, in many instances, to legal blindness at the end... 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2019
PURPOSEWe observed four individuals in two unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration,... 
Journal Article