Kết quả tìm kiếm - Navarro-Gomez, Daniel

The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa Bằng Comander, Jason, Weigel-DiFranco, Carol, Maher, Matthew, Place, Emily, Wan, Aliete, Harper, Shyana, Sandberg, Michael A., Navarro-Gomez, Daniel, Pierce, Eric A.

lấy văn bản lấy văn bản lấy văn bản

Allele-Specific CRISPR-Cas9 Genome Editing of the Single-Base P23H Mutation for Rhodopsin-Associated Dominant Retinitis Pigmentosa Bằng Li, Pingjuan, Kleinstiver, Benjamin P., Leon, Mihoko Y., Prew, Michelle S., Navarro-Gomez, Daniel, Greenwald, Scott H., Pierce, Eric A., Joung, J. Keith, Liu, Qin

lấy văn bản lấy văn bản lấy văn bản

Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier Bằng Navarro-Gomez, Daniel, Leipzig, Jeremy, Shen, Lishuang, Lott, Marie, Stassen, Alphons P.M., Wallace, Douglas C., Wiggs, Janey L., Falk, Marni J., van Oven, Mannis, Gai, Xiaowu

lấy văn bản lấy văn bản lấy văn bản

A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families Bằng Bronstein, Revital, Capowski, Elizabeth E, Mehrotra, Sudeep, Jansen, Alex D, Navarro-Gomez, Daniel, Maher, Mathew, Place, Emily, Sangermano, Riccardo, Bujakowska, Kinga M, Gamm, David M, Pierce, Eric A

lấy văn bản lấy văn bản lấy văn bản

NOD2 genetic variants and sarcoidosis-associated uveitis() Bằng Davoudi, Samaneh, Navarro-Gomez, Daniel, Shen, Lishuang, Ung, Cindy, Ren, Aiai, Sullivan, Lynn, Kwong, Mindy, Janessian, Maria, Comander, Jason, Gai, Xiaowu, Lobo, Ann-Marie, Papaliodis, George N., Sobrin, Lucia

lấy văn bản lấy văn bản lấy văn bản

Association of genetic variants in RAB23 and ANXA11 with uveitis in sarcoidosis Bằng Davoudi, Samaneh, Chang, Victoria S., Navarro-Gomez, Daniel, Stanwyck, Lynn K., Sevgi, Damla Duriye, Papavasileiou, Evangelia, Ren, Aiai, Uchiyama, Eduardo, Sullivan, Lynn, Lobo, Ann-Marie, Papaliodis, George N., Sobrin, Lucia

lấy văn bản lấy văn bản

Copy Number Variation Is An Important Contributor to the Genetic Causality of Inherited Retinal Degenerations Bằng Bujakowska, Kinga M., Fernandez-Godino, Rosario, Place, Emily, Cosugar, Mark, Navarro-Gomez, Daniel, White, Joseph, Bedoukian, Emma C., Zhu, Xiaosong, Xie, Hongbo M., Gai, Xiaowu, Leroy, Bart P., Pierce, Eric A.

lấy văn bản lấy văn bản lấy văn bản

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration Bằng Jamshidi, Farzad, Place, Emily M., Mehrotra, Sudeep, Navarro-Gomez, Daniel, Maher, Mathew, Branham, Kari E., Valkanas, Elise, Cherry, Timothy J., Lek, Monkol, MacArthur, Daniel, Pierce, Eric A., Bujakowska, Kinga M.

lấy văn bản lấy văn bản lấy văn bản

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations Bằng Zampaglione, Erin, Kinde, Benyam, Place, Emily M., Navarro-Gomez, Daniel, Maher, Matthew, Jamshidi, Farzad, Nassiri, Sherwin, Mazzone, J. Alex, Finn, Caitlin, Schlegel, Dana, Comander, Jason, Pierce, Eric A., Bujakowska, Kinga M.

lấy văn bản lấy văn bản lấy văn bản

Targeted Exon Sequencing in Usher Syndrome Type I Bằng Bujakowska, Kinga M., Consugar, Mark, Place, Emily, Harper, Shyana, Lena, Jaclyn, Taub, Daniel G., White, Joseph, Navarro-Gomez, Daniel, Weigel DiFranco, Carol, Farkas, Michael H., Gai, Xiaowu, Berson, Eliot L., Pierce, Eric A.

lấy văn bản lấy văn bản lấy văn bản

Expanding the phenotypic spectrum in RDH12-associated retinal disease Bằng Scott, Hilary A., Place, Emily M., Ferenchak, Kevin, Zampaglione, Erin, Wagner, Naomi E., Chao, Katherine R., DiTroia, Stephanie P., Navarro-Gomez, Daniel, Mukai, Shizuo, Huckfeldt, Rachel M., Pierce, Eric A., Bujakowska, Kinga M.

lấy văn bản lấy văn bản lấy văn bản

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease Bằng Shen, Lishuang, Diroma, Maria Angela, Gonzalez, Michael, Navarro-Gomez, Daniel, Leipzig, Jeremy, Lott, Marie T., van Oven, Mannis, Wallace, Douglas C., Muraresku, Colleen Clarke, Zolkipli-Cunningham, Zarazuela, Chinnery, Patrick F., Attimonelli, Marcella, Zuchner, Stephan, Falk, Marni J., Gai, Xiaowu

lấy văn bản lấy văn bản lấy văn bản

Whole Exome Sequencing Identification of Novel Candidate Genes in Patients with Proliferative Diabetic Retinopathy Bằng Ung, Cindy, Sanchez, Angie V., Shen, Lishuang, Davoudi, Samaneh, Ahmadi, Tina, Navarro-Gomez, Daniel, Chen, Ching J., Hancock, Heather, Penman, Alan, Hoadley, Suzanne, Consugar, Mark, Restrepo, Carlos, Shah, Vinay A., Arboleda-Velasquez, Joseph F., Sobrin, Lucia, Gai, Xiaowu, Kim, Leo A.

lấy văn bản lấy văn bản lấy văn bản

Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and Reproducible and More Sensitive for Variant Detection Than Exome Sequencing Bằng Consugar, Mark B., Navarro-Gomez, Daniel, Place, Emily M., Bujakowska, Kinga M., Sousa, Maria E., Fonseca-Kelly, Zoë D., Taub, Daniel G., Janessian, Maria, Wang, Dan Yi, Au, Elizabeth D., Sims, Katherine B., Sweetser, David A., Fulton, Anne B., Liu, Qin, Wiggs, Janey L., Gai, Xiaowu, Pierce, Eric A.

lấy văn bản lấy văn bản lấy văn bản

Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for t... Bằng Falk, Marni J., Shen, Lishuang, Gonzalez, Michael, Leipzig, Jeremy, Lott, Marie T., Stassen, Alphons P.M., Diroma, Maria Angela, Navarro-Gomez, Daniel, Yeske, Philip, Bai, Renkui, Boles, Richard G., Brilhante, Virginia, Ralph, David, DaRe, Jeana T., Shelton, Robert, Terry, Sharon, Zhang, Zhe, Copeland, William C., van Oven, Mannis, Prokisch, Holger, Wallace, Douglas C., Attimonelli, Marcella, Krotoski, Danuta, Zuchner, Stephan, Gai, Xiaowu

lấy văn bản lấy văn bản lấy văn bản