المؤلفون: Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R., England, Eleina M., Laricchia, Kristen M., Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B., Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G., Straub, Volker, Baets, Jonathan, De Ridder, Willem

المساهمون: MYO-SEQ Consortium

المصدر: 1098-3600 ; Genetics in medicine

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000539889800001

الاتاحة: https://hdl.handle.net/10067/1752500151162165141
https://repository.uantwerpen.be/docstore/d:irua:4405

المؤلفون: Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R., England, Eleina M., Laricchia, Kristen M., Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B., Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G., Akay, Ela, Alonso-Pérez, Jorge, Baets, Jonathan, Barisic, Nina, Bastian, Alexandra, Borell, Sabine, Chamova, Teodora, Claeys, Kristl, Colomer, Jaume, Coppens, Sandra, Deconinck, Nicolas, de Ridder, Willem, Díaz-Manera, Jordi, Domínguez-González, Cristina, Duncan, Alexis, Durmus, Hacer, Fahmy, Nagia A., Farrugia, Maria Elena, Fernández-Torrón, Roberto, Gonzalez-Quereda, Lidia, Haberlova, Jana, von der Hagen, Maja, Hahn, Andreas, Jakovčević, Antonia, Jerico Pascual, Ivonne, Kapetanovic, Solange, Kenina, Viktorija, Kirschner, Janbernd, Klein, Andrea, Kölbel, Heike, Kostera-Pruszczyk, Anna

المصدر: Genetics in Medicine ; volume 22, issue 9, page 1478-1488 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-020-0840-3
http://www.nature.com/articles/s41436-020-0840-3.pdf
http://www.nature.com/articles/s41436-020-0840-3
https://api.elsevier.com/content/article/PII:S1098360021007243?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021007243?httpAccept=text/plain

المؤلفون: England, Eleina M., Toepf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R., Laricchia, Kristen M., Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasus, Ana B., Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G., Straub, Volker

المساهمون: İstanbul Üniversitesi , Tıp Fakültesi , Nöroloji, 2214432

مصطلحات موضوعية: Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, GENETİK VE HAYAT, Yaşam Bilimleri (LIFE), Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik

Relation: GENETICS IN MEDICINE; Toepf A., Johnson K., Bates A., Phillips L., Chao K. R. , England E. M. , Laricchia K. M. , Mullen T., Valkanas E., Xu L., et al., "Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness", GENETICS IN MEDICINE, 2020; vv_1032021; av_32acd27b-9d61-46c6-b79d-9119b4d04c90; http://hdl.handle.net/20.500.12627/38376; https://doi.org/10.1038/s41436-020-0840-3

الاتاحة: https://hdl.handle.net/20.500.12627/38376
https://doi.org/10.1038/s41436-020-0840-3

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: Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R, England, Eleina M, Laricchia, Kristen M, Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B, Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G, Straub, Volker

المصدر: Töpf, Ana; Johnson, Katherine; Bates, Adam; Phillips, Lauren; Chao, Katherine R; England, Eleina M; Laricchia, Kristen M; Mullen, Thomas; Valkanas, Elise; Xu, Liwen; Bertoli, Marta; Blain, Alison; Casasús, Ana B; Duff, Jennifer; Mroczek, Magdalena; Specht, Sabine; Lek, Monkol; Ensini, Monica; MacArthur, Daniel G and Straub, Volker (2020). Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genetics in medicine, 22(9), pp. 1478-1488. Springer Nature 10.1038/s41436-020-0840-3

Relation: https://boris.unibe.ch/156385/

الاتاحة: https://boris.unibe.ch/156385/