Zoekresultaten - Lek, Monkol

Decoding the genetics of rare disease: an interview with Monkol Lek door Lek, Monkol

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Envisioning the next human genome reference door Lek, Monkol, Mardis, Elaine R.

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Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality door Dawes, Ruebena, Lek, Monkol, Cooper, Sandra T.

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Genetic variance in human disease – modelling the future of genomic medicine door Lek, Monkol, Hmeljak, Julija, Hooper, Kirsty M.

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Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders door Legati, Andrea, Giacopuzzi, Edoardo, Spinazzi, Marco, Lek, Monkol

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Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins door Lek, Angela, Lek, Monkol, North, Kathryn N, Cooper, Sandra T

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Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy door Cohen, Justin, DeSimone, Alec, Lek, Monkol, Lek, Angela

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Cellular and animal models for facioscapulohumeral muscular dystrophy door DeSimone, Alec M., Cohen, Justin, Lek, Monkol, Lek, Angela

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Phylogenetic Analysis of Gene Structure and Alternative Splicing in α-Actinins door Lek, Monkol, MacArthur, Daniel G., Yang, Nan, North, Kathryn N.

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Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome door Alrohaif, Hadil, Töpf, Ana, Evangelista, Teresinha, Lek, Monkol, McArthur, Daniel, Lochmüller, Hanns

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Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a door Liu, Renjing, Ginn, Samantha L, Lek, Monkol, North, Kathryn N, Alexander, Ian E, Little, David G, Schindeler, Aaron

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ACTN3 Allele Frequency in Humans Covaries with Global Latitudinal Gradient door Friedlander, Scott M., Herrmann, Amanda L., Lowry, Daniel P., Mepham, Emily R., Lek, Monkol, North, Kathryn N., Organ, Chris L.

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Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects door Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, Sunyaev, Shamil, Daly, Mark, MacArthur, Daniel G.

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Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report door van der Ven, Amelie T., Shril, Shirlee, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Laricchia, Kristen M., Lek, Monkol, Tasic, Velibor, Hildebrandt, Friedhelm

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Patterns of genic intolerance of rare copy number variation in 59,898 human exomes door Ruderfer, Douglas M., Hamamsy, Tymor, Lek, Monkol, Karczewski, Konrad J., Kavanagh, David, Samocha, Kaitlin E., Daly, Mark J., MacArthur, Daniel G., Fromer, Menachem, Purcell, Shaun M.

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STRetch: detecting and discovering pathogenic short tandem repeat expansions door Dashnow, Harriet, Lek, Monkol, Phipson, Belinda, Halman, Andreas, Sadedin, Simon, Lonsdale, Andrew, Davis, Mark, Lamont, Phillipa, Clayton, Joshua S., Laing, Nigel G., MacArthur, Daniel G., Oshlack, Alicia

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Validation of the CMT Pediatric Scale as an outcome measure of disability door Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Pallant, Julie F., Lek, Monkol, Muntoni, Francesco, Reilly, Mary M., Pareyson, Davide, Acsadi, Gyula, Shy, Michael E., Finkel, Richard S.

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Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation door Hu, Ying, Mohassel, Payam, Donkervoort, Sandra, Yun, Pomi, Bolduc, Véronique, Ezzo, Daniel, Dastgir, Jahannaz, Marshall, Jamie L., Lek, Monkol, MacArthur, Daniel G., Foley, A. Reghan, Bönnemann, Carsten G.

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Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues door Kukurba, Kimberly R., Zhang, Rui, Li, Xin, Smith, Kevin S., Knowles, David A., How Tan, Meng, Piskol, Robert, Lek, Monkol, Snyder, Michael, MacArthur, Daniel G., Li, Jin Billy, Montgomery, Stephen B.

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Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration door 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.

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