Výsledky vyhledávání - Raymond, F. Lucy

Lessons learnt from large-scale exon re-sequencing of the X chromosome Autor Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef

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Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability Autor Bathelt, Joe, Astle, Duncan, Barnes, Jessica, Raymond, F. Lucy, Baker, Kate

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Global and Local Connectivity Differences Converge With Gene Expression in a Neurodevelopmental Disorder of Known Genetic Origin Autor Bathelt, Joe, Barnes, Jessica, Raymond, F Lucy, Baker, Kate, Astle, Duncan

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Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study Autor Baker, Kate, Scerif, Gaia, Astle, Duncan E, Fletcher, Paul C, Raymond, F Lucy

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Recommendations for designing genetic test reports to be understood by patients and non-specialists Autor Farmer, George D., Gray, Harry, Chandratillake, Gemma, Raymond, F Lucy, Freeman, Alexandra L. J.

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Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements Autor Whibley, Annabel, Urquhart, Jill, Dore, Jonathan, Willatt, Lionel, Parkin, Georgina, Gaunt, Lorraine, Black, Graeme, Donnai, Dian, Raymond, F Lucy

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Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations Autor Baker, Kate, Astle, Duncan E, Scerif, Gaia, Barnes, Jessica, Smith, Jennie, Moffat, Georgina, Gillard, Jonathan, Baldeweg, Torsten, Raymond, F Lucy

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Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion Autor Takatani, Rieko, Molinaro, Angelo, Grigelioniene, Giedre, Tafaj, Olta, Watanabe, Tomoyuki, Reyes, Monica, Sharma, Amita, Singhal, Vibha, Raymond, F Lucy, Linglart, Agnès, Jüppner, Harald

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Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks Autor Kerzendorfer, Claudia, Whibley, Annabel, Carpenter, Gillian, Outwin, Emily, Chiang, Shih-Chieh, Turner, Gillian, Schwartz, Charles, El-Khamisy, Sherif, Raymond, F. Lucy, O'Driscoll, Mark

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Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability Autor Sanchis-Juan, Alba, Bitsara, Christina, Low, Kay Yi, Carss, Keren J., French, Courtney E., Spasic-Boskovic, Olivera, Jarvis, Joanna, Field, Michael, Raymond, F. Lucy, Grozeva, Detelina

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Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 Autor Green, Peter, Wiseman, Matthew, Crow, Yanick J., Houlden, Henry, Riphagen, Shelley, Lin, Jean-Pierre, Raymond, F. Lucy, Childs, Anne-Marie, Sheridan, Eamonn, Edwards, Sian, Josifova, Dragana J.

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Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate Autor Sanchis‐Juan, Alba, Hasenahuer, Marcia A., Baker, James A., McTague, Amy, Barwick, Katy, Kurian, Manju A., Duarte, Sofia T., Carss, Keren J., Thornton, Janet, Raymond, F. Lucy

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Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth Autor Homan, Claire C., Kumar, Raman, Nguyen, Lam Son, Haan, Eric, Raymond, F. Lucy, Abidi, Fatima, Raynaud, Martine, Schwartz, Charles E., Wood, Stephen A., Gecz, Jozef, Jolly, Lachlan A.

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SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance Autor Jurkute, Neringa, D'Esposito, Fabiana, Robson, Anthony G., Pitceathly, Robert D. S., Cordeiro, Francesca, Raymond, F. Lucy, Moore, Anthony T., Michaelides, Michel, Yu-Wai-Man, Patrick, Webster, Andrew R., Arno, Gavin

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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation Autor Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef

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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation Autor Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef

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Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability Autor Bosshard, Matthias, Aprigliano, Rossana, Gattiker, Cristina, Palibrk, Vuk, Markkanen, Enni, Backe, Paul Hoff, Pellegrino, Stefania, Raymond, F. Lucy, Froyen, Guy, Altmeyer, Matthias, Bjørås, Magnar, Dianov, Grigory L., van Loon, Barbara

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Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability Autor Bosshard, Matthias, Aprigliano, Rossana, Gattiker, Cristina, Palibrk, Vuk, Markkanen, Enni, Backe, Paul Hoff, Pellegrino, Stefania, Raymond, F. Lucy, Froyen, Guy, Altmeyer, Matthias, Bjørås, Magnar, Dianov, Grigory L., Loon, Barbara van

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Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy Autor Kantarci, Sibel, Ragge, Nicola K., Thomas, N. Simon, Robinson, David O., Noonan, Kristin M., Russell, Meaghan K., Donnai, Dian, Raymond, F. Lucy, Walsh, Christopher A., Donahoe, Patricia K., Pober, Barbara R.

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Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2 Autor Ferner, Rosalie E., Shaw, Adam, Evans, D. Gareth, McAleer, Dympna, Halliday, Dorothy, Parry, Allyson, Raymond, F. Lucy, Durie-Gair, Juliette, Hanemann, C. Oliver, Hornigold, Rachel, Axon, Patrick, Golding, John F.

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