Bilaketaren emaitzak - Bai, Renkui

3-Phosphoinositide-dependent Protein Kinase-1 (PDK1) promotes invasion and activation of matrix metalloproteinases nork Xie, Zhihui, Yuan, Hongyan, Yin, Yuzhi, Zeng, Xiao, Bai, Renkui, Glazer, Robert I

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Mitochondrial DNA deletions with low-level heteroplasmy in adult-onset myopathy nork Leung, Doris G., Cohen, Julie S., Michelle, E. Harlan, Bai, Renkui, Mammen, Andrew L., Christopher-Stine, Lisa

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MSeqDR mvTool: a Mitochondrial DNA Web and API Resource for Comprehensive Variant Annotation, Universal Nomenclature Collation, and Reference Genome Conversion nork Shen, Lishuang, Attimonelli, Marcella, Bai, Renkui, Lott, Marie T., Wallace, Douglas C., Falk, Marni J., Gai, Xiaowu

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Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency nork Apatean, Delia, Rakic, Bojana, Brunel-Guitton, Catherine, Hendson, Glenda, Bai, Renkui, Sargent, Michael A., Lavoie, Pascal M., Patel, Millan, Stockler-Ipsiroglu, Sylvia

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Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency nork Apatean, Delia, Rakic, Bojana, Brunel-Guitton, Catherine, Hendson, Glenda, Bai, Renkui, Sargent, Michael A., Lavoie, Pascal M., Patel, Millan, Stockler-Ipsiroglu, Sylvia

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MRI spectrum of Succinate Dehydrogenase-related infantile leukoencephalopathy nork Helman, Guy, Caldovic, Ljubica, Whitehead, Matthew T., Simons, Cas, Brockmann, Knut, Edvardson, Simon, Bai, Renkui, Moroni, Isabella, Taylor, J. Michael, Van Haren, Keith, Taft, Ryan J., Vanderver, Adeline, van der Knaap, Marjo S.

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De novo mutations in PURA are associated with hypotonia and developmental delay nork Tanaka, Akemi J., Bai, Renkui, Cho, Megan T., Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L., Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juusola, Jane, Chung, Wendy K.

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Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes nork Whitley, Brittany N, Lam, Christina, Cui, Hong, Haude, Katrina, Bai, Renkui, Escobar, Luis, Hamilton, Afifa, Brady, Lauren, Tarnopolsky, Mark A, Dengle, Lauren, Picker, Jonathan, Lincoln, Sharyn, Lackner, Laura L, Glass, Ian A, Hoppins, Suzanne

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Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-S... nork Gustafson, Margaret A., McCormick, Elizabeth M., Perera, Lalith, Longley, Matthew J., Bai, Renkui, Kong, Jianping, Dulik, Matthew, Shen, Lishuang, Goldstein, Amy C., McCormack, Shana E., Laskin, Benjamin L., Leroy, Bart P., Ortiz-Gonzalez, Xilma R., Ellington, Meredith G., Copeland, William C., Falk, Marni J.

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Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy nork Otero, Maria G., Tiongson, Emmanuelle, Diaz, Frank, Haude, Katrina, Panzer, Karin, Collier, Ashley, Kim, Jaemin, Adams, David, Tifft, Cynthia J., Cui, Hong, Millian Zamora, Francisca, Au, Margaret G., Graham, John M., Buckley, David J., Lewis, Richard, Toro, Camilo, Bai, Renkui, Turner, Lesley, Mathews, Katherine D., Gahl, William, Pierson, Tyler Mark

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Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. nork McCormick, Elizabeth M., Lott, Marie T., Dulik, Matthew C., Shen, Lishuang, Attimonelli, Marcella, Vitale, Ornella, Karaa, Amel, Bai, Renkui, Pineda-Alvarez, Daniel E., Singh, Larry N., Stanley, Christine M., Wong, Stacey, Bhardwaj, Anshu, Merkurjev, Daria, Mao, Rong, Sondheimer, Neal, Zhang, Shiping, Procaccio, Vincent, Wallace, Douglas C., Gai, Xiaowu, Falk, Marni J.

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Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for t... nork 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

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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome nork Lake, Nicole J., Webb, Bryn D., Stroud, David A., Richman, Tara R., Ruzzenente, Benedetta, Compton, Alison G., Mountford, Hayley S., Pulman, Juliette, Zangarelli, Coralie, Rio, Marlene, Bodaert, Nathalie, Assouline, Zahra, Sherpa, Mingma D., Schadt, Eric E., Houten, Sander M., Byrnes, James, McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Haude, Katrina, Zhang, Zhancheng, Retterer, Kyle, Bai, Renkui, Calvo, Sarah E., Mootha, Vamsi K., Christodoulou, John, Rötig, Agnes, Filipovska, Aleksandra, Cristian, Ingrid, Falk, Marni J., Metodiev, Metodi D., Thorburn, David R.

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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome nork Lake, Nicole J., Webb, Bryn D., Stroud, David A., Richman, Tara R., Ruzzenente, Benedetta, Compton, Alison G., Mountford, Hayley S., Pulman, Juliette, Zangarelli, Coralie, Rio, Marlene, Boddaert, Nathalie, Assouline, Zahra, Sherpa, Mingma D., Schadt, Eric E., Houten, Sander M., Byrnes, James, McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Haude, Katrina, Zhang, Zhancheng, Retterer, Kyle, Bai, Renkui, Calvo, Sarah E., Mootha, Vamsi K., Christodoulou, John, Rötig, Agnes, Filipovska, Aleksandra, Cristian, Ingrid, Falk, Marni J., Metodiev, Metodi D., Thorburn, David R.

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