检索结果 - Simons, Cas

Transposon-free regions in mammalian genomes 由 Simons, Cas, Pheasant, Michael, Makunin, Igor V., Mattick, John S.

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Orthologous MicroRNA Genes Are Located in Cancer-Associated Genomic Regions in Human and Mouse 由 Makunin, Igor V., Pheasant, Michael, Simons, Cas, Mattick, John S.

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Maintenance of transposon-free regions throughout vertebrate evolution 由 Simons, Cas, Makunin, Igor V, Pheasant, Michael, Mattick, John S

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Effect of 5'UTR introns on gene expression in Arabidopsis thaliana 由 Chung, Betty YW, Simons, Cas, Firth, Andrew E, Brown, Chris M, Hellens, Roger P

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Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction 由 Nafisinia, Michael, Riley, Lisa G., Gold, Wendy A., Bhattacharya, Kaustuv, Broderick, Carolyn R., Thorburn, David R., Simons, Cas, Christodoulou, John

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Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm 由 Jayasinghe, Kushani, White, Susan M., Kerr, Peter G., MacGregor, Duncan, Stark, Zornitza, Wilkins, Ella, Simons, Cas, Mallett, Andrew, Quinlan, Catherine

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Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy 由 Vanderver, Adeline, Simons, Cas, Schmidt, Johanna L., Pearl, Philip L., Bloom, Miriam, Lavenstein, Bennett, Miller, David, Grimmond, Sean M., Taft, Ryan J.

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Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy 由 Ito, Yoko, Hartley, Taila, Baird, Stephen, Venkateswaran, Sunita, Simons, Cas, Wolf, Nicole I., Boycott, Kym M., Dyment, David A., Kernohan, Kristin D.

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Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1 由 Prokudin, Ivan, Simons, Cas, Grigg, John R, Storen, Rebecca, Kumar, Vikrant, Phua, Zai Y, Smith, James, Flaherty, Maree, Davila, Sonia, Jamieson, Robyn V

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Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability 由 Hunt, David, Leventer, Richard J, Simons, Cas, Taft, Ryan, Swoboda, Kathryn J, Gawne-Cain, Mary, Magee, Alex C, Turnpenny, Peter D, Baralle, Diana

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Utilising polymorphisms to achieve allele-specific genome editing in zebrafish 由 Capon, Samuel J., Baillie, Gregory J., Bower, Neil I., da Silva, Jason A., Paterson, Scott, Hogan, Benjamin M., Simons, Cas, Smith, Kelly A.

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Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human Brain 由 Fröhlich, Dominik, Suchowerska, Alexandra K., Voss, Carola, He, Ruojie, Wolvetang, Ernst, von Jonquieres, Georg, Simons, Cas, Fath, Thomas, Housley, Gary D., Klugmann, Matthias

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Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation 由 Mallett, Andrew J., Quinlan, Catherine, Patel, Chirag, Fowles, Lindsay, Crawford, Joanna, Gattas, Michael, Baer, Richard, Bennetts, Bruce, Ho, Gladys, Holman, Katherine, Simons, Cas

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Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient 由 Miller, David K., Menezes, Minal J., Simons, Cas, Riley, Lisa G., Cooper, Sandra T., Grimmond, Sean M., Thorburn, David R., Christodoulou, John, Taft, Ryan J.

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The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology 由 Soraru, Jacqueline, Jahan, Sadia, Quinlan, Catherine, Simons, Cas, Wardrop, Louise, O’Shea, Rosie, Wood, Alasdair, Mallawaarachchi, Amali, Patel, Chirag, Stark, Zornitza, Mallett, Andrew John

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Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants 由 Stellingwerff, Menno D., Nulton, Corinne, Helman, Guy, Roosendaal, Stefan D., Benko, William S., Pizzino, Amy, Bugiani, Marianna, Vanderver, Adeline, Simons, Cas, van der Knaap, Marjo S.

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DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder 由 Wolf, Nicole I., Toro, Camilo, Kister, Ilya, Latif, Kartikasalwah Abd, Leventer, Richard, Pizzino, Amy, Simons, Cas, Abbink, Truus E.M., Taft, Ryan J., van der Knaap, Marjo S., Vanderver, Adeline

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Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis 由 Conant, Alexander, Curiel, Julian, Pizzino, Amy, Sabetrasekh, Parisa, Murphy, Jennifer, Bloom, Miriam, Evans, Sarah H., Helman, Guy, Taft, Ryan J., Simons, Cas, Whitehead, Matthew T., Moore, Steven A., Vanderver, Adeline

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Expression of distinct RNAs from 3′ untranslated regions 由 Mercer, Tim R., Wilhelm, Dagmar, Dinger, Marcel E., Soldà, Giulia, Korbie, Darren J., Glazov, Evgeny A., Truong, Vy, Schwenke, Maren, Simons, Cas, Matthaei, Klaus I., Saint, Robert, Koopman, Peter, Mattick, John S.

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MRI spectrum of Succinate Dehydrogenase-related infantile leukoencephalopathy 由 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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