المؤلفون: de Stahl, TD, Sandgren, J, Piotrowski, A, Nord, H, Andersson, R, Menzel, U, Bogdan, A, Thuresson, AC, Poplawski, A, von Tell, D, Hansson, CM, Elshafie, AI, ElGhazali, G, Imreh, S, Nordenskjold, M, Upadhyaya, M, Komorowski, J, Bruder, CEG, Dumanski, JP

المصدر: Human mutation. 29(3):398-408

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:116721961Test

المؤلفون: Forde, C, Burkitt-Wright, E, Turnpenny, PD, Haan, E, Ealing, J, Mansour, S, Holder, M, Lahiri, N, Dixit, A, Procter, A, Pacot, L, Vidaud, D, Capri, Y, Gerard, M, Dollfus, H, Schaefer, E, Quelin, C, Sigaudy, S, Busa, T, Vera, G, Damaj, L, Messiaen, L, Stevenson, DA, Davies, P, Palmer-Smith, S, Callaway, A, Wolkenstein, P, Pasmant, E, Upadhyaya, M

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113939/1/s41431-021-01015-4.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113939/6/41431_2021_1015_MOESM1_ESM.pdfTest; Forde, C; Burkitt-Wright, E; Turnpenny, PD; Haan, E; Ealing, J; Mansour, S; Holder, M; Lahiri, N; Dixit, A; Procter, A; et al. Forde, C; Burkitt-Wright, E; Turnpenny, PD; Haan, E; Ealing, J; Mansour, S; Holder, M; Lahiri, N; Dixit, A; Procter, A; Pacot, L; Vidaud, D; Capri, Y; Gerard, M; Dollfus, H; Schaefer, E; Quelin, C; Sigaudy, S; Busa, T; Vera, G; Damaj, L; Messiaen, L; Stevenson, DA; Davies, P; Palmer-Smith, S; Callaway, A; Wolkenstein, P; Pasmant, E; Upadhyaya, M (2022) Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study. Eur J Hum Genet, 30 (3). pp. 291-297. ISSN 1476-5438 https://doi.org/10.1038/s41431-021-01015-4Test SGUL Authors: Mansour, Sahar

الإتاحة: https://doi.org/10.1038/s41431-021-01015-4Test
https://openaccess.sgul.ac.uk/id/eprint/113939Test/
https://openaccess.sgul.ac.uk/id/eprint/113939/1/s41431-021-01015-4.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113939/6/41431_2021_1015_MOESM1_ESM.pdfTest

المؤلفون: Karavadara, D, Davidson, JR, Story, L, Diab, Y, Upadhyaya, M

المصدر: Pediatric Surgery International (2021) (In press).

مصطلحات موضوعية: Antenatal diagnosis, OSS, Ovarian loss, Ovarian sparing surgery, Pediatric ovarian lesions

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10131328/1/Karavadara2021_Article_MissedOpportunitiesForOvarianS.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10131328Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10131328/1/Karavadara2021_Article_MissedOpportunitiesForOvarianS.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10131328Test/

المؤلفون: Davidson, JR, Lee, DR, Suresh, D, Wright, H, Upadhyaya, M, Yardley, IE

المصدر: Journal of Pediatric Gastroenterology and Nutrition , 72 (1) e4-e9. (2021)

مصطلحات موضوعية: Balloon gastrostomy, button gastrostomy, case control study, gastrostomy, percutaneous endoscopic gastrostomy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10120007/1/Open_Primary_Button_vs__Laparoscopic_Percutaneous.95952.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10120007Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10120007/1/Open_Primary_Button_vs__Laparoscopic_Percutaneous.95952.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10120007Test/

المؤلفون: Mahato, P, Khanal, S, Upadhyaya, M

المصدر: Nepalese Veterinary Journal; Vol. 38 (2023); 123- 128 ; 2091-0290

مصطلحات موضوعية: Clinical, Epidemiology, Dogs, Kathmandu valley

وصف الملف: application/pdf

العلاقة: https://www.nepjol.info/index.php/nvj/article/view/55856/41734Test; https://www.nepjol.info/index.php/nvj/article/view/55856Test

الإتاحة: https://www.nepjol.info/index.php/nvj/article/view/55856Test

المؤلفون: Shahi, MK, Boonyo, K, Wongphruksasoong, V, Dhingra, M.S., Upadhyaya, M, Kafle, S.K., Koirala, P, Maharjan, M

المصدر: Nepalese Veterinary Journal; Vol. 37 (2020); 82-93 ; 2091-0290

مصطلحات موضوعية: Animal rabies, Crosssectional study, Nepal

وصف الملف: application/pdf

العلاقة: https://www.nepjol.info/index.php/nvj/article/view/55519/41441Test; https://www.nepjol.info/index.php/nvj/article/view/55519Test

الإتاحة: https://www.nepjol.info/index.php/nvj/article/view/55519Test

المؤلفون: Plotkin S. R., Messiaen L., Legius E., Pancza P., Avery R. A., Blakeley J. O., Babovic-Vuksanovic D., Ferner R., Fisher M. J., Friedman J. M., Giovannini M., Gutmann D. H., Hanemann C. O., Kalamarides M., Kehrer-Sawatzki H., Korf B. R., Mautner V. -F., MacCollin M., Papi L., Rauen K. A., Riccardi V., Schorry E., Smith M. J., Stemmer-Rachamimov A., Stevenson D. A., Ullrich N. J., Viskochil D., Wimmer K., Yohay K., Anten M., Aylsworth A., Baralle D., Barbarot S., Barker F., Ben-Shachar S., Bergner A., Bessis D., Blanco I., Cassiman C., Ciavarelli P., Clementi M., Frebourg T., Gomes A., Halliday D., Helen Hanson Arvid Heiberg C. H., Joly P., Jordan J. T., Karajannis M., Kroshinsky D., Larralde M., Lazaro C., Le L., Link M., Listernick R., Mallucci C., Merker V. L., Moertel C., Mueller A., Ngeow J., Oostenbrink R., Packer R., Parry A., Peltonen J., Pichard D., Poppe B., Rezende N., Rodrigues L. O., Rosser T., Ruggieri M., Serra E., Steinke-Lange V., Stivaros S. M., Taylor A., Toelen J., Tonsgard J., Trevisson E., Upadhyaya M., Varan A., Wilson M., Wu H., Zadeh G., Huson S. M., Wolkenstein P., Evans D. G.

المساهمون: Plotkin, S. R., Messiaen, L., Legius, E., Pancza, P., Avery, R. A., Blakeley, J. O., Babovic-Vuksanovic, D., Ferner, R., Fisher, M. J., Friedman, J. M., Giovannini, M., Gutmann, D. H., Hanemann, C. O., Kalamarides, M., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V. -F., Maccollin, M., Papi, L., Rauen, K. A., Riccardi, V., Schorry, E., Smith, M. J., Stemmer-Rachamimov, A., Stevenson, D. A., Ullrich, N. J., Viskochil, D., Wimmer, K., Yohay, K., Anten, M., Aylsworth, A., Baralle, D., Barbarot, S., Barker, F., Ben-Shachar, S., Bergner, A., Bessis, D., Blanco, I., Cassiman, C., Ciavarelli, P., Clementi, M., Frebourg, T., Gomes, A., Halliday, D., Helen Hanson Arvid Heiberg, C. H., Joly, P., Jordan, J. T., Karajannis, M., Kroshinsky, D., Larralde, M., Lazaro, C., Le, L., Link, M., Listernick, R., Mallucci, C., Merker, V. L., Moertel, C., Mueller, A., Ngeow, J., Oostenbrink, R., Packer, R., Parry, A., Peltonen, J., Pichard, D., Poppe, B., Rezende, N., Rodrigues, L. O., Rosser, T., Ruggieri, M., Serra, E., Steinke-Lange, V., Stivaros, S. M., Taylor, A., Toelen, J., Tonsgard, J., Trevisson, E., Upadhyaya, M., Varan, A., Wilson, M., Wu, H., Zadeh, G., Huson, S. M., Wolkenstein, P., Evans, D. G.

مصطلحات موضوعية: NF2, Neurofibromatosi, SMARCB1, Schwannomatosi, lztr1

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35674741; info:eu-repo/semantics/altIdentifier/wos/WOS:000855692500017; volume:24; issue:9; firstpage:1967; lastpage:1977; numberofpages:11; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11577/3473739Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85132738125; https://www.sciencedirect.com/science/article/pii/S1098360022007730?via=ihubTest

الإتاحة: https://doi.org/10.1016/j.gim.2022.05.007Test
https://hdl.handle.net/11577/3473739Test
https://www.sciencedirect.com/science/article/pii/S1098360022007730?via=ihubTest

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: Allin, B, Long, AM, Gupta, A, Knight, M, Lakhoo, K, Kazmierski, M, Kenny, S, Lopes, J, Cusick, E, Parsons, G, McCabe, A, Upadhyaya, M, Walker, G, De Coppi, P, Besarovic, S, Thakkar, H, Tullie, L, Sutcliffe, J, Eradi, B, Ross, A, Maphango, N, Motiwale, S, Salloum, A, Pardy, C, Waly, R, Charlesworth, P, Craigie, R, Lall, A, Lindley, R, Johal, N, Njere, I, Mortell, A, Nandi, B, Jones, A, Fouad, D, Tan, YW, Kufeji, D, Stanwell, J, Lakshminarayanan, B, Burge, D, Wetherill, C, Niyogi, A, Parsons, C, Doyle, M, Turner, A, Yardley, I, Shrestha, R, Mullassery, D, Paramalingham, S, Ragazzi, S

المصدر: Scientific Reports , 7 , Article 41149. (2017)

مصطلحات موضوعية: Epidemiology, Gastrointestinal diseases, Paediatric research, Small intestine

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1544885/1/DeCoppi_A%20UK%20wide_infants%20with%20surgical_.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1544885Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1544885/1/DeCoppi_A%20UK%20wide_infants%20with%20surgical_.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1544885Test/

المؤلفون: Lemmers, R.J.L.F., Vliet, P.J. van der, Granado, D.S., Stoep, N. van der, Buermans, H., Schendel, R. van, Schimmel, J., Visser, M. de, Coster, R. van, Jeanpierre, M., Laforet, P., Upadhyaya, M., Engelen, B. van, Sacconi, S., Tawil, R., Voermans, N.C., Rogers, M., Maarel, S.M. van der

المصدر: Human Molecular Genetics

وصف الملف: application/pdf

العلاقة: lumc-id: 174654199; https://hdl.handle.net/1887/3563680Test

الإتاحة: https://doi.org/10.1093/hmg/ddab250Test
https://hdl.handle.net/1887/3563680Test