المؤلفون: Koczkowska, M., Chen, Y., Callens, T., Gomes, A., Sharp, A., Johnson, S., Hsiao, M.-C., Chen, Z., Balasubramanian, M., Barnett, C.P., Becker, T.A., Ben-Shachar, S., Bertola, D.R., Blakeley, J.O., Burkitt-Wright, E.M.M., Callaway, A., Crenshaw, M., Cunha, K.S., Cunningham, M., D'Agostino, M.D., Dahan, K., De Luca, A., Destrée, A., Dhamija, R., Eoli, M., Evans, D.G.R., Galvin-Parton, P., George-Abraham, J.K., Gripp, K.W., Guevara-Campos, J., Hanchard, N.A., Hernández-Chico, C., Immken, L., Janssens, S., Jones, K.J., Keena, B.A., Kochhar, A., Liebelt, J., Martir-Negron, A., Mahoney, M.J., Maystadt, I., McDougall, C., McEntagart, M., Mendelsohn, N., Miller, D.T., Mortier, G., Morton, J., Pappas, J., Plotkin, S.R., Pond, D., Rosenbaum, K., Rubin, K., Russell, L., Rutledge, L.S., Saletti, V., Schonberg, R., Schreiber, A., Seidel, M., Siqveland, E., Stockton, D.W., Trevisson, E., Ullrich, N.J., Upadhyaya, M., van Minkelen, R., Verhelst, H., Wallace, M.R., Yap, Y.-S., Zackai, E., Zonana, J., Zurcher, V., Claes, K., Martin, Y., Korf, B.R., Legius, E., Messiaen, L.M.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/125931/8/1-s2.0-S0002929717304901-main.pdfTest; Koczkowska, M., Chen, Y., Callens, T. et al. (72 more authors) (2018) Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. American Journal of Human Genetics, 102 (1). pp. 69-87. ISSN 0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.12.001Test
https://eprints.whiterose.ac.uk/125931Test/
https://eprints.whiterose.ac.uk/125931/8/1-s2.0-S0002929717304901-main.pdfTest

المؤلفون: O'Donovan, Michael Conlon, Oefner, P. J., Roberts, S. C., Austin, J., Hoogendoorn, B., Guy, C., Speight, G., Upadhyaya, M., Sommer, S. S., McGuffin, P.

مصطلحات موضوعية: RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry

العلاقة: O'Donovan, Michael Conlon https://orca.cardiff.ac.uk/view/cardiffauthors/A038895E.htmlTest orcid:0000-0001-7073-2379 orcid:0000-0001-7073-2379, Oefner, P. J., Roberts, S. C., Austin, J., Hoogendoorn, B., Guy, C., Speight, G., Upadhyaya, M., Sommer, S. S. and McGuffin, P. 1998. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics 52 (1) , pp. 44-49. 10.1006/geno.1998.5411 https://doi.org/10.1006/geno.1998.5411Test

الإتاحة: https://doi.org/10.1006/geno.1998.5411Test
https://orca.cardiff.ac.uk/id/eprint/81623Test/
http://www.sciencedirect.com/science/journal/08887543Test

المؤلفون: Upadhyaya, M., Lunt, P.W., Sarfarazi, M., Broadhead, W., Daniels, J., Owen, Michael John, Harper, P.S.

مصطلحات موضوعية: R Medicine (General)

العلاقة: Upadhyaya, M., Lunt, P.W., Sarfarazi, M., Broadhead, W., Daniels, J., Owen, Michael John https://orca.cardiff.ac.uk/view/cardiffauthors/A069868J.htmlTest orcid:0000-0003-4798-0862 orcid:0000-0003-4798-0862 and Harper, P.S. 1990. DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease. The Lancet 336 (8726) , pp. 1320-1321. 10.1016/0140-6736(90)93005-A https://doi.org/10.1016/0140-6736%2890%2993005-ATest

الإتاحة: https://doi.org/10.1016/0140-6736Test(90)93005-A
https://orca.cardiff.ac.uk/id/eprint/81063Test/