Resultados de procura - Azmanov, Dimitar N.

Studying Disease-Associated UBE3A Missense Variants Using Enhanced Sampling Molecular Simulations por Agostino, Mark, McKenzie, Fiona, Buck, Chloe, Woodward, Karen J., Atkinson, Vanessa J., Azmanov, Dimitar N., Heng, Julian Ik-Tsen

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Challenges of diagnostic exome sequencing in an inbred founder population por Azmanov, Dimitar N, Chamova, Teodora, Tankard, Rick, Gelev, Vladimir, Bynevelt, Michael, Florez, Laura, Tzoneva, Dochka, Zlatareva, Dora, Guergueltcheva, Velina, Bahlo, Melanie, Tournev, Ivailo, Kalaydjieva, Luba

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Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1 por Guergueltcheva, Velina, Azmanov, Dimitar N., Angelicheva, Dora, Smith, Katherine R., Chamova, Teodora, Florez, Laura, Bynevelt, Michael, Nguyen, Thai, Cherninkova, Sylvia, Bojinova, Veneta, Kaprelyan, Ara, Angelova, Lyudmila, Morar, Bharti, Chandler, David, Kaneva, Radka, Bahlo, Melanie, Tournev, Ivailo, Kalaydjieva, Luba

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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay por Singh, Ram, Cohen, Ana S.A., Poulton, Cathryn, Hjortshøj, Tina Duelund, Akahira-Azuma, Moe, Mendiratta, Geetu, Khan, Wahab A., Azmanov, Dimitar N., Woodward, Karen J., Kirchhoff, Maria, Shi, Lisong, Edelmann, Lisa, Baynam, Gareth, Scott, Stuart A., Jabs, Ethylin Wang

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Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy por Corbett, Mark A., van Eyk, Clare L., Webber, Dani L., Bent, Stephen J., Newman, Morgan, Harper, Kelly, Berry, Jesia G., Azmanov, Dimitar N., Woodward, Karen J., Gardner, Alison E., Slee, Jennie, Pérez-Jurado, Luís A., MacLennan, Alastair H., Gecz, Jozef

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Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy por Corbett, Mark A., van Eyk, Clare L., Webber, Dani L., Bent, Stephen J., Newman, Morgan, Harper, Kelly, Berry, Jesia G., Azmanov, Dimitar N., Woodward, Karen J., Gardner, Alison E., Slee, Jennie, Pérez-Jurado, Luís A., MacLennan, Alastair H., Gecz, Jozef

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LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population por Azmanov, Dimitar N, Dimitrova, Stanislava, Florez, Laura, Cherninkova, Sylvia, Draganov, Dragomir, Morar, Bharti, Saat, Rosmawati, Juan, Manel, Arostegui, Juan I, Ganguly, Sriparna, Soodyall, Himla, Chakrabarti, Subhabrata, Padh, Harish, López-Nevot, Miguel A, Chernodrinska, Violeta, Anguelov, Botio, Majumder, Partha, Angelova, Lyudmila, Kaneva, Radka, Mackey, David A, Tournev, Ivailo, Kalaydjieva, Luba

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Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor por Kumar, Raman, Palmer, Elizabeth, Gardner, Alison E., Carroll, Renee, Banka, Siddharth, Abdelhadi, Ola, Donnai, Dian, Elgersma, Ype, Curry, Cynthia J., Gardham, Alice, Suri, Mohnish, Malla, Rishikesh, Brady, Lauren Ilana, Tarnopolsky, Mark, Azmanov, Dimitar N., Atkinson, Vanessa, Black, Michael, Baynam, Gareth, Dreyer, Lauren, Hayeems, Robin Z., Marshall, Christian R., Costain, Gregory, Wessels, Marja W., Baptista, Julia, Drummond, James, Leffler, Melanie, Field, Michael, Gecz, Jozef

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Angiopoietin-1 is required for Schlemm’s canal development in mice and humans por Thomson, Benjamin R., Souma, Tomokazu, Tompson, Stuart W., Onay, Tuncer, Kizhatil, Krishnakumar, Siggs, Owen M., Feng, Liang, Whisenhunt, Kristina N., Yanovitch, Tammy L., Kalaydjieva, Luba, Azmanov, Dimitar N., Finzi, Simone, Tanna, Christine E., Hewitt, Alex W., Mackey, David A., Bradfield, Yasmin S., Souzeau, Emmanuelle, Javadiyan, Shari, Wiggs, Janey L., Pasutto, Francesca, Liu, Xiaorong, John, Simon W.M., Craig, Jamie E., Jin, Jing, Young, Terri L., Quaggin, Susan E.

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Pathogenic Variants in RNPC3 are Associated with Hypopituitarism and Primary Ovarian Insufficiency por Akin, Leyla, Rizzoti, Karine, Gregory, Louise C, Corredor, Beatriz, Le Quesne Stabej, Polona, Williams, Hywel, Buonocore, Federica, Mouilleron, Stephane, Capra, Valeria, McGlacken-Byrne, Sinead M, Martos-Moreno, Gabriel Á, Azmanov, Dimitar N., Kendirci, Mustafa, Kurtoglu, Selim, Suntharalingham, Jenifer P., Galichet, Christophe, Gustincich, Stefano, Tasic, Velibor, Achermann, John C., Accogli, Andrea, Filipovska, Aleksandra, Tuilpakov, Anatoly, Maghnie, Mohamad, Gucev, Zoran, Gonen, Z. Burcin, Pérez-Jurado, Luis A, Robinson, Iain, Badge, Robin Lovell, Argente, Jesús, Dattani, Mehul T

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Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity por Souma, Tomokazu, Tompson, Stuart W., Thomson, Benjamin R., Siggs, Owen M., Kizhatil, Krishnakumar, Yamaguchi, Shinji, Feng, Liang, Limviphuvadh, Vachiranee, Whisenhunt, Kristina N., Maurer-Stroh, Sebastian, Yanovitch, Tammy L., Kalaydjieva, Luba, Azmanov, Dimitar N., Finzi, Simone, Mauri, Lucia, Javadiyan, Shahrbanou, Souzeau, Emmanuelle, Zhou, Tiger, Hewitt, Alex W., Kloss, Bethany, Burdon, Kathryn P., Mackey, David A., Allen, Keri F., Ruddle, Jonathan B., Lim, Sing-Hui, Rozen, Steve, Tran-Viet, Khanh-Nhat, Liu, Xiaorong, John, Simon, Wiggs, Janey L., Pasutto, Francesca, Craig, Jamie E., Jin, Jing, Quaggin, Susan E., Young, Terri L.

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