المؤلفون: Topf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasus AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG, Akay E, Alonso-Perez J, Baets J, Barisic N, Bastian A, Borell S, Chamova T, Claeys K, Colomer J, Coppens S, Deconinck N, de Ridder W, Diaz-Manera J, Dominguez-Gonzalez C, Duncan A, Durmus H, Fahmy NA, Farrugia ME, Fernandez-Torron R, Gonzalez-Quereda L, Haberlova J, von der Hagen M, Hahn A, Jakovcevic A, JericoPascual I, Kapetanovic S, Kenina V, Kirschner J, Klein A, Kolbel H, Kostera-Pruszczyk A, Kulshrestha R, Lahdetie J, Layegh M, Longman C, Lopezde Munain A, Loscher W, Lusakowska A, Maddison P, Magot A, Majumdar A, Marti P, MartinezArroyo A, Mazanec R, Mercier S, Mongini T, Muelas N, Nascimento A, Nafissi S, Omidi S, Ortez C, Paquay S, Pereon Y, Peric S, Ponzalino V, Rakocevic Stojanovic V, Remiche G, RodriguezSainz A, Rudnik S, SanchezAlbisua I, Santos M, Schara U, Shatillo A, Sertic J, Stephani U, Strang-Karlsson S, Sznajer Y, Tanev A, Tournev I, Van den Bergh P, Van Parijs V, Vilchez J, Vill K, Vissing J, Wallgren-Pettersson C, Wanschitz J, Willis T, Witting N, Zulaica M, Straub V

المصدر: Genetics in Medicine, 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/267566; https://eprints.ncl.ac.uk/fulltext.aspx?url=267566/5017D509-DDA2-4331-9E22-C96779FB4397.pdf&pub_id=267566

الاتاحة: https://eprints.ncl.ac.uk/267566

المؤلفون: Topf A., Johnson K., Bates A., Phillips L., Chao K. R., England E. M., Laricchia K. M., Mullen T., Valkanas E., Xu L., Bertoli M., Blain A., Casasus A. B., Duff J., Mroczek M., Specht S., Lek M., Ensini M., MacArthur D. G., Akay E., Alonso-Perez J., Baets J., Barisic N., Bastian A., Borell S., Chamova T., Claeys K., Colomer J., Coppens S., Deconinck N., de Ridder W., Diaz-Manera J., Dominguez-Gonzalez C., Duncan A., Durmus H., Fahmy N. A., Farrugia M. E., Fernandez-Torron R., Gonzalez-Quereda L., Haberlova J., von der Hagen M., Hahn A., Jakovcevic A., JericoPascual I., Kapetanovic S., Kenina V., Kirschner J., Klein A., Kolbel H., Kostera-Pruszczyk A., Kulshrestha R., Lahdetie J., Layegh M., Longman C., Lopezde Munain A., Loscher W., Lusakowska A., Maddison P., Magot A., Majumdar A., Marti P., MartinezArroyo A., Mazanec R., Mercier S., Mongini T., Muelas N., Nascimento A., Nafissi S., Omidi S., Ortez C., Paquay S., Pereon Y., Peric S., Ponzalino V., Rakocevic Stojanovic V., Remiche G., RodriguezSainz A., Rudnik S., SanchezAlbisua I., Santos M., Schara U., Shatillo A., Sertic J., Stephani U., Strang-Karlsson S., Sznajer Y., Tanev A., Tournev I., Van den Bergh P., Van Parijs V., Vilchez J., Vill K., Vissing J., Wallgren-Pettersson C., Wanschitz J., Willis T., Witting N., Zulaica M., Straub V.

المساهمون: Topf A., Johnson K., Bates A., Phillips L., Chao K.R., England E.M., Laricchia K.M., Mullen T., Valkanas E., Xu L., Bertoli M., Blain A., Casasus A.B., Duff J., Mroczek M., Specht S., Lek M., Ensini M., MacArthur D.G., Akay E., Alonso-Perez J., Baets J., Barisic N., Bastian A., Borell S., Chamova T., Claeys K., Colomer J., Coppens S., Deconinck N., de Ridder W., Diaz-Manera J., Dominguez-Gonzalez C., Duncan A., Durmus H., Fahmy N.A., Farrugia M.E., Fernandez-Torron R., Gonzalez-Quereda L., Haberlova J., von der Hagen M., Hahn A., Jakovcevic A., JericoPascual I., Kapetanovic S., Kenina V., Kirschner J., Klein A., Kolbel H., Kostera-Pruszczyk A., Kulshrestha R., Lahdetie J., Layegh M., Longman C., Lopezde Munain A., Loscher W., Lusakowska A., Maddison P., Magot A., Majumdar A., Marti P., MartinezArroyo A., Mazanec R., Mercier S., Mongini T., Muelas N., Nascimento A., Nafissi S., Omidi S., Ortez C., Paquay S., Pereon Y., Peric S., Ponzalino V., Rakocevic Stojanovic V., Remiche G., RodriguezSainz A., Rudnik S., SanchezAlbisua I., Santos M., Schara U., Shatillo A., Sertic J., Stephani U., Strang-Karlsson S., Sznajer Y., Tanev A., Tournev I., Van den Bergh P., Van Parijs V., Vilchez J., Vill K., Vissing J., Wallgren-Pettersson C., Wanschitz J., Willis T., Witting N., Zulaica M., Straub V.

مصطلحات موضوعية: genetic diagnosi, limb-girdle weakne, neuromuscular disease, next-generation sequencing, targeted exome analysis

Relation: info:eu-repo/semantics/altIdentifier/pmid/32528171; info:eu-repo/semantics/altIdentifier/wos/WOS:000539889800001; volume:22; issue:9; firstpage:1478; lastpage:1488; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/2318/1786318; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086267166

الاتاحة: http://hdl.handle.net/2318/1786318
https://doi.org/10.1038/s41436-020-0840-3

المؤلفون: Topf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasus AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG, Akay E, Alonso-Perez J, Baets J, Barisic N, Bastian A, Borell S, Chamova T, Claeys K, Colomer J, Coppens S, Deconinck N, de Ridder W, Diaz-Manera J, Dominguez-Gonzalez C, Duncan A, Durmus H, Fahmy NA, Farrugia ME, Fernandez-Torron R, Gonzalez-Quereda L, Haberlova J, von der Hagen M, Hahn A, Jakovcevic A, JericoPascual I, Kapetanovic S, Kenina V, Kirschner J, Klein A, Kolbel H, Kostera-Pruszczyk A, Kulshrestha R, Lahdetie J, Layegh M, Longman C, Lopezde Munain A, Loscher W, Lusakowska A, Maddison P, Magot A, Majumdar A, Marti P, MartinezArroyo A, Mazanec R, Mercier S, Mongini T, Muelas N, Nascimento A, Nafissi S, Omidi S, Ortez C, Paquay S, Pereon Y, Peric S, Ponzalino V, Rakocevic Stojanovic V, Remiche G, RodriguezSainz A, Rudnik S, SanchezAlbisua I, Santos M, Schara U, Shatillo A, Sertic J, Stephani U, Strang-Karlsson S, Sznajer Y, Tanev A, Tournev I, Van den Bergh P, Van Parijs V, Vilchez J, Vill K, Vissing J, Wallgren-Pettersson C, Wanschitz J, Willis T, Witting N, Zulaica M, Straub V

المصدر: Genetics in Medicine, 2020

وصف الملف: application/pdf

الاتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=267566/5017D509-DDA2-4331-9E22-C96779FB4397.pdf&pub_id=267566