Arama Sonuçları - Lek, Monkol

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report Yazar: 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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes Yazar: 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.

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

STRetch: detecting and discovering pathogenic short tandem repeat expansions Yazar: 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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Validation of the CMT Pediatric Scale as an outcome measure of disability Yazar: 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.

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation Yazar: 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.

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues Yazar: 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.

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

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

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim