المؤلفون: Chen, S., Groop, L., Melander, O., Nilsson, P.M., Smith, J. Gustav, MacArthur, D.G., Karczewski, K.J.

المصدر: Nature EpiHealth: Epidemiology for Health EXODIAB: Excellence of Diabetes Research in Sweden MultiPark: Multidisciplinary research focused on Parkinson´s disease. 625(7993):92-100

مصطلحات موضوعية: Chromosome Mapping, Gene Frequency, Genetic Variation, Genome, Human, Genomics, Humans, Mutation, allele, DNA, gene expression, genome, mutation, protein, triangulation, article, gene frequency, genetic variation, human, human genome, natural selection, open reading frame, chromosomal mapping, genetics, genomics, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/5805be33-cb32-4cb2-90b6-d452ba9c5735Test
http://dx.doi.org/10.1038/s41586-023-06045-0Test

المؤلفون: Töpf, A., Cox, D., Zaharieva, I.T., Leo, V. Di, Sarparanta, J., Jonson, P.H., Sealy, I.M., Smolnikov, A., White, R.J., Vihola, A., Savarese, M., Merteroglu, M., Wali, N., Laricchia, K.M., Venturini, C., Vroling, B., Stenton, S.L., Cummings, B.B., Harris, E., Marini-Bettolo, C., Diaz-Manera, J., Henderson, M., Barresi, R., Duff, J., England, E.M., Patrick, J., Al-Husayni, S., Biancalana, V., Beggs, A.H., Bodi, I., Bommireddipalli, S., Bönnemann, C.G., Cairns, A., Chiew, M.T., Claeys, K.G., Cooper, S.T., Davis, M.R., Donkervoort, S., Erasmus, C.E., Fassad, M.R., Genetti, C.A., Grosmann, C., Jungbluth, H., Kamsteeg, E.J., Lornage, X., Löscher, W.N., Malfatti, E., Manzur, A., Martí, P., Mongini, T.E., Muelas, N., Nishikawa, A., O'Donnell-Luria, A., Ogonuki, N., O'Grady, G.L., O'Heir, E., Paquay, S., Phadke, R., Pletcher, B.A., Romero, N.B., Schouten, M.I., Shah, Snehal, Smuts, I., Sznajer, Y., Tasca, G., Taylor, R.W., Tuite, A., Bergh, P. van den, VanNoy, G., Voermans, N.C., Wanschitz, J.V., Wraige, E., Yoshimura, K., Oates, E.C., Nakagawa, O., Nishino, I., Laporte, J., Vilchez, J.J., MacArthur, D.G., Sarkozy, A., Cordell, H.J., Udd, B., Busch-Nentwich, E.M., Muntoni, F., Straub, V.

المصدر: Nature Genetics, 56, 3, pp. 395-407

مصطلحات موضوعية: Radboudumc 0: Other Research DCMN: Donders Center for Medical Neuroscience, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl/handle/2066/304793Test

الإتاحة: https://doi.org/10.1038/s41588-023-01651-0Test
https://repository.ubn.ru.nl/handle/2066/304793Test

المؤلفون: Töpf, 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., Casasús, A.B., Duff, J., Mroczek, M., Specht, S., Lek, M., Ensini, M., MacArthur, D.G., Akay, E., Alonso-Pérez, Jorge, Baets, J., Barisic, N., Bastian, A., Borell, S., Chamova, T., Claeys, K., Colomer, J., Coppens, S., Deconinck, N., de Ridder, W., Diaz-Manera, Jordi, Domínguez-González, C., Duncan, A., Durmus, H., Fahmy, N.A., Farrugia, M.E., Fernández-Torrón, R., Gonzalez-Quereda, L., Haberlova, J., von der Hagen, M., Hahn, A., JakovÄević, A., Jerico Pascual, I., Kapetanovic, S., Kenina, V., Kirschner, J., Klein, A., Kölbel, H., Kostera-Pruszczyk, A., Kulshrestha, R., Lähdetie, J., Layegh, M., Longman, C., López de Munain, A., Loscher, W., Lusakowska, A., Maddison, P., Magot, A., Majumdar, A., Martí, P., Martínez Arroyo, A., Mazanec, R., Mercier, S., Mongini, T., Muelas, N., Nascimento, A., Nafissi, S., Omidi, S., Ortez González, Carlos Ignacio, Paquay, S., Pereon, Y., Perić, S., Ponzalino, V., RakoÄević Stojanović, V., Remiche, G., Rodríguez Sainz, A., Rudnik, S., Sanchez Albisua, I., Santos, M., Schara, U., Shatillo, A., Sertić, J., Stephani, U., Strang-Karlsson, S., Sznajer, Y., Tanev, A., Tournev, I., Van den Bergh, P., Van Parijs, V., Vílchez, J., Vill, K., Vissing, J., Wallgren-Pettersson, C., Wanschitz, J., Willis, T., Witting, N., Zulaica, Miren, Straub, V., Universitat Autònoma de Barcelona

مصطلحات موضوعية: Genetic diagnosis, Limb-girdle weakness, Neuromuscular disease, Next-generation sequencing, Targeted exome analysis

وصف الملف: application/pdf

العلاقة: Genetics in medicine; Vol. 22 Núm. 9 (january 2020), p. 1478-1488; https://ddd.uab.cat/record/284622Test; urn:10.1038/s41436-020-0840-3; urn:oai:ddd.uab.cat:284622; urn:scopus_id:85086267166; urn:articleid:15300366v22n9p1478; urn:pmid:32528171; urn:pmc-uid:7462745; urn:pmcid:PMC7462745; urn:oai:pubmedcentral.nih.gov:7462745

الإتاحة: https://ddd.uab.cat/record/284622Test

المؤلفون: Wang, Q., Pierce-Hoffman, E., Cummings, B.B., Alföldi, J., Francioli, L.C., Gauthier, L.D., Hill, A.J., O’Donnell-Luria, A.H., Armean, I.M., Banks, E., Bergelson, L., Cibulskis, K., Collins, R.L., Connolly, K.M., Covarrubias, M., Daly, M.J., Donnelly, S., Farjoun, Y., Ferriera, S., Gabriel, S., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Laricchia, K.M., Llanwarne, C., Minikel, E.V., Munshi, R., Neale, B.M., Novod, S., Petrillo, N., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G., Wang, A., Ware, J.S., Watts, N.A., Weisburd, B., Whiffin, N., Aguilar Salinas, C.A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Barnard, J., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bottinger, E.P., Bowden, D.W., Bown, M.J., Chambers, J.C., Chan, J.C., Chasman, D., Cho, J., Chung, M.K., Cohen, B., Correa, A., Dabelea, D., Darbar, D., Duggirala, R., Dupuis, J., Ellinor, P.T., Elosua, R., Erdmann, J., Esko, T., Färkkilä, M., Florez, J., Franke, A., Getz, G., Glaser, B., Glatt, S.J., Goldstein, D., Gonzalez, C., Groop, L., Haiman, C., Hanis, C., Harms, M., Hiltunen, M., Holi, M.M., Hultman, C.M., Kallela, M., Kaprio, J., Kathiresan, S., Kim, B.-J., Kim, Y.J., Kirov, G., Kooner, J., Koskinen, S., Krumholz, H.M., Kugathasan, S., Kwak, S.H., Laakso, M., Lehtimäki, T., Loos, R.J.F., Lubitz, S.A., Ma, R.C.W., Marrugat, J., Mattila, K.M., McCarroll, S., McCarthy, M.I., McGovern, D., McPherson, R., Meigs, J.B., Melander, O., Metspalu, A., Nilsson, P.M., O’Donovan, M.C., Ongur, D., Orozco, L., Owen, M.J., Palmer, C.N.A., Palotie, A., Park, K.S., Pato, C., Pulver, A.E., Rahman, N., Remes, A.M., Rioux, J.D., Ripatti, S., Roden, D.M., Saleheen, D., Salomaa, V., Samani, N.J., Scharf, J., Schunkert, H., Shoemaker, M.B., Sklar, P., Soininen, H., Sokol, H., Spector, T., Sullivan, P.F., Suvisaari, J., Tai, E.S., Teo, Y.Y., Tiinamaija, T., Tsuang, M., Turner, D., Tusie-Luna, T., Vartiainen, E., Watkins, H., Weersma, R.K., Wessman, M., Wilson, J.G., Xavier, R.J., Karczewski, K.J., MacArthur, D.G., Genome Aggregation Database Production Team., Genome Aggregation Database Consortium.

المساهمون: DEAN'S OFFICE (SSH SCH OF PUBLIC HEALTH), DEPT OF MEDICINE

المصدر: Scopus OA2020

العلاقة: Wang, Q., Pierce-Hoffman, E., Cummings, B.B., Alföldi, J., Francioli, L.C., Gauthier, L.D., Hill, A.J., O’Donnell-Luria, A.H., Armean, I.M., Banks, E., Bergelson, L., Cibulskis, K., Collins, R.L., Connolly, K.M., Covarrubias, M., Daly, M.J., Donnelly, S., Farjoun, Y., Ferriera, S., Gabriel, S., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Laricchia, K.M., Llanwarne, C., Minikel, E.V., Munshi, R., Neale, B.M., Novod, S., Petrillo, N., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G., Wang, A., Ware, J.S., Watts, N.A., Weisburd, B., Whiffin, N., Aguilar Salinas, C.A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Barnard, J., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bottinger, E.P., Bowden, D.W., Bown, M.J., Chambers, J.C., Chan, J.C., Chasman, D., Cho, J., Chung, M.K., Cohen, B., Correa, A., Dabelea, D., Darbar, D., Duggirala, R., Dupuis, J., Ellinor, P.T., Elosua, R., Erdmann, J., Esko, T., Färkkilä, M., Florez, J., Franke, A., Getz, G., Glaser, B., Glatt, S.J., Goldstein, D., Gonzalez, C., Groop, L., Haiman, C., Hanis, C., Harms, M., Hiltunen, M., Holi, M.M., Hultman, C.M., Kallela, M., Kaprio, J., Kathiresan, S., Kim, B.-J., Kim, Y.J., Kirov, G., Kooner, J., Koskinen, S., Krumholz, H.M., Kugathasan, S., Kwak, S.H., Laakso, M., Lehtimäki, T., Loos, R.J.F., Lubitz, S.A., Ma, R.C.W., Marrugat, J., Mattila, K.M., McCarroll, S., McCarthy, M.I., McGovern, D., McPherson, R., Meigs, J.B., Melander, O., Metspalu, A., Nilsson, P.M., O’Donovan, M.C., Ongur, D., Orozco, L., Owen, M.J., Palmer, C.N.A., Palotie, A., Park, K.S., Pato, C., Pulver, A.E., Rahman, N., Remes, A.M., Rioux, J.D., Ripatti, S., Roden, D.M., Saleheen, D., Salomaa, V., Samani, N.J., Scharf, J., Schunkert, H., Shoemaker, M.B., Sklar, P., Soininen, H., Sokol, H., Spector, T., Sullivan, P.F., Suvisaari, J., Tai, E.S., Teo, Y.Y., Tiinamaija, T., Tsuang, M., Turner, D., Tusie-Luna, T., Vartiainen, E., Watkins, H., Weersma, R.K., Wessman, M., Wilson, J.G., Xavier, R.J., Karczewski, K.J., MacArthur, D.G., Genome Aggregation Database Production Team., Genome Aggregation Database Consortium. (2020). Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nature Communications 11 (1) : 2539. ScholarBank@NUS Repository. https://doi.org/10.1038/s41467-019-12438-5Test; https://scholarbank.nus.edu.sg/handle/10635/198086Test

الإتاحة: https://doi.org/10.1038/s41467-019-12438-5Test
https://scholarbank.nus.edu.sg/handle/10635/198086Test

المؤلفون: Haworth, S., Shapland, C.Y., Hayward, C., Prins, B.P., Felix, J.F., Medina-Gomez, C., Rivadeneira, F., Wang, C., Ahluwalia, T.S., Vrijheid, M., Guxens, M., Sunyer, J., Tachmazidou, I., Walter, K., Iotchkova, V., Jackson, A., Cleal, L., Huffmann, J., Min, J.L., Sass, L., Timmers, P.R.H.J., Turki, S.A., Anderson, C.A., Anney, R., Antony, D., Artigas, M.S., Ayub, M., Bala, S., Barrett, J.C., Barroso, I., Beales, P., Bentham, J., Bhattacharya, S., Birney, E., Blackwood, D., Bobrow, M., Bochukova, E., Bolton, P.F., Bounds, R., Boustred, C., Breen, G., Calissano, M., Carss, K., Charlton, R., Chatterjee, K., Chen, L., Ciampi, A., Cirak, S., Clapham, P., Clement, G., Coates, G., Cocca, M., Collier, D.A., Cosgrove, C., Cox, T., Craddock, N., Crooks, L., Curran, S., Curtis, D., Daly, A., Danecek, P., Day, I.N.M., Day-Williams, A., Dominiczak, A., Down, T., Du, Y., Dunham, I., Durbin, R., Edkins, S., Ekong, R., Ellis, P., Evans, D.M., Farooqi, I.S., Fitzpatrick, D.R., Flicek, P., Floyd, J., Foley, A.R., Franklin, C.S., Futema, M., Gallagher, L., Gaunt, T.R., Geihs, M., Geschwind, D., Greenwood, C.M.T., Griffin, H., Grozeva, D., Guo, X., Gurling, H., Hart, D., Hendricks, A.E., Holmans, P., Howie, B., Huang, J., Huang, L., Hubbard, T., Humphries, S.E., Hurles, M.E., Hysi, P., Jackson, D.K., Jamshidi, Y., Joyce, C., Karczewski, K.J., Kaye, J., Keane, T., Kemp, J.P., Kennedy, K., Kent, A., Keogh, J., Khawaja, F., van Kogelenberg, M., Kolb-Kokocinski, A., Lachance, G., Langford, C., Lawson, D., Lee, I., Lek, M., Li, R., Li, Y., Liang, J., Lin, H., Liu, R., Lonnqvist, J., Lopes, L.R., Lopes, M., MacArthur, D.G., Mangino, M., Marchini, J., Marenne, G., Maslen, J., Mathieson, I., McCarthy, S., McGuffin, P., McIntosh, A.M., McKechanie, A.G., McQuillin, A., Memari, Y., Metrustry, S., Migone, N., Mitchison, H.M., Moayyeri, A., Morris, A., Morris, J., Muddyman, D., Muntoni, F., Northstone, K., O?Donovan, M.C., O?Rahilly, S., Onoufriadis, A., Oualkacha, K., Owen, M.J., Palotie, A., Panoutsopoulou, K., Parker, V., Parr, J.R., Paternoster, L., Paunio, T., Payne, F., Payne, S.J., Perry, J.R.B., Pietilainen, O., Plagnol, V., Pollitt, R.C., Porteous, D.J., Povey, S., Quail, M.A., Quaye, L., Raymond, F.L., Rehnstrom, K., Richards, J.B., Ridout, C.K., Ring, S., Ritchie, G.R.S., Roberts, N., Robinson, R.L., Savage, D.B., Scambler, P., Schiffels, S., Schmidts, M., Schoenmakers, N., Scott, R.H., Semple, R.K., Serra, E., Sharp, S.I., Shaw, A., Shihab, H.A., Shin, S.-Y., Skuse, D., Small, K.S., Smee, C., Smith, B.H., Soranzo, N., Southam, L., Spasic-Boskovic, O., Spector, T.D., St Clair, D., Stalker, J., Stevens, E., Sun, J., Surdulescu, G., Suvisaari, J., Syrris, P., Taylor, R., Tian, J., Tobin, M.D., Valdes, A.M., Vandersteen, A.M., Vijayarangakannan, P., Visscher, P.M., Wain, L.V., Walters, J.T.R., Wang, G., Wang, J., Wang, Y., Ward, K., Wheeler, E., Whyte, T., Williams, Hywel J., Williamson, K.A., Wilson, C., Wilson, S.G., Wong, K., Xu, C.J., Yang, J., Zhang, F., Zhang, P., Zheng, H.-F., Davey Smith, G., Fisher, S.E., Wilson, J.F., Cole, T.J., Fernandez-Orth, D., B?nnelykke, K., Bisgaard, H., Pennell, C.E., Jaddoe, V.W.V., Dedoussis, G., Timpson, N., Zeggini, E., Vitart, V., St Pourcain, B.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/128295/1/s41467-018-07863-x.pdfTest; Haworth, S., Shapland, C.Y., Hayward, C., Prins, B.P., Felix, J.F., Medina-Gomez, C., Rivadeneira, F., Wang, C., Ahluwalia, T.S., Vrijheid, M., Guxens, M., Sunyer, J., Tachmazidou, I., Walter, K., Iotchkova, V., Jackson, A., Cleal, L., Huffmann, J., Min, J.L., Sass, L., Timmers, P.R.H.J., Turki, S.A., Anderson, C.A., Anney, R., Antony, D., Artigas, M.S., Ayub, M., Bala, S., Barrett, J.C., Barroso, I., Beales, P., Bentham, J., Bhattacharya, S., Birney, E., Blackwood, D., Bobrow, M., Bochukova, E., Bolton, P.F., Bounds, R., Boustred, C., Breen, G., Calissano, M., Carss, K., Charlton, R., Chatterjee, K., Chen, L., Ciampi, A., Cirak, S., Clapham, P., Clement, G., Coates, G., Cocca, M., Collier, D.A., Cosgrove, C., Cox, T., Craddock, N., Crooks, L., Curran, S., Curtis, D., Daly, A., Danecek, P., Day, I.N.M., Day-Williams, A., Dominiczak, A., Down, T., Du, Y., Dunham, I., Durbin, R., Edkins, S., Ekong, R., Ellis, P., Evans, D.M., Farooqi, I.S., Fitzpatrick, D.R., Flicek, P., Floyd, J., Foley, A.R., Franklin, C.S., Futema, M., Gallagher, L., Gaunt, T.R., Geihs, M., Geschwind, D., Greenwood, C.M.T., Griffin, H., Grozeva, D., Guo, X., Guo, X., Gurling, H., Hart, D., Hendricks, A.E., Holmans, P., Howie, B., Huang, J., Huang, L., Hubbard, T., Humphries, S.E., Hurles, M.E., Hysi, P., Jackson, D.K., Jamshidi, Y., Joyce, C., Karczewski, K.J., Kaye, J., Keane, T., Kemp, J.P., Kennedy, K., Kent, A., Keogh, J., Khawaja, F., van Kogelenberg, M., Kolb-Kokocinski, A., Lachance, G., Langford, C., Lawson, D., Lee, I., Lek, M., Li, R., Li, Y., Liang, J., Lin, H., Liu, R., Lonnqvist, J., Lopes, L.R., Lopes, M., MacArthur, D.G., Mangino, M., Marchini, J., Marenne, G., Maslen, J., Mathieson, I., McCarthy, S., McGuffin, P., McIntosh, A.M., McKechanie, A.G., McQuillin, A., Memari, Y., Metrustry, S., Migone, N., Mitchison, H.M., Moayyeri, A., Morris, A., Morris, J., Muddyman, D., Muntoni, F., Northstone, K., O?Donovan, M.C., O?Rahilly, S., Onoufriadis, A., Oualkacha, K., Owen, M.J., Palotie, A., Panoutsopoulou, K., Parker, V., Parr, J.R., Paternoster, L., Paunio, T., Payne, F., Payne, S.J., Perry, J.R.B., Pietilainen, O., Plagnol, V., Pollitt, R.C., Porteous, D.J., Povey, S., Quail, M.A., Quaye, L., Raymond, F.L., Rehnstrom, K., Richards, J.B., Ridout, C.K., Ring, S., Ritchie, G.R.S., Roberts, N., Robinson, R.L., Savage, D.B., Scambler, P., Schiffels, S., Schmidts, M., Schoenmakers, N., Scott, R.H., Semple, R.K., Serra, E., Sharp, S.I., Shaw, A., Shihab, H.A., Shin, S.-Y., Skuse, D., Small, K.S., Smee, C., Smith, B.H., Soranzo, N., Southam, L., Spasic-Boskovic, O., Spector, T.D., St Clair, D., Stalker, J., Stevens, E., Sun, J., Surdulescu, G., Suvisaari, J., Syrris, P., Taylor, R., Tian, J., Tobin, M.D., Valdes, A.M., Vandersteen, A.M., Vijayarangakannan, P., Visscher, P.M., Wain, L.V., Walters, J.T.R., Wang, G., Wang, J., Wang, Y., Ward, K., Wheeler, E., Whyte, T., Williams, Hywel J. https://orca.cardiff.ac.uk/view/cardiffauthors/A069945P.htmlTest orcid:0000-0001-7758-0312 orcid:0000-0001-7758-0312, Williamson, K.A., Wilson, C., Wilson, S.G., Wong, K., Xu, C.J., Yang, J., Zhang, F., Zhang, P., Zheng, H.-F., Davey Smith, G., Fisher, S.E., Wilson, J.F., Cole, T.J., Fernandez-Orth, D., B?nnelykke, K., Bisgaard, H., Pennell, C.E., Jaddoe, V.W.V., Dedoussis, G., Timpson, N., Zeggini, E., Vitart, V. and St Pourcain, B. 2019. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications 10 , 357. 10.1038/s41467-018-07863-x https://doi.org/10.1038/s41467-018-07863-xTest file https://orca.cardiff.ac.uk/id/eprint/128295/1/s41467-018-07863-x.pdfTest

الإتاحة: https://doi.org/10.1038/s41467-018-07863-xTest
https://orca.cardiff.ac.uk/id/eprint/128295Test/
https://orca.cardiff.ac.uk/id/eprint/128295/1/s41467-018-07863-x.pdfTest

المؤلفون: Rivas, M.A., Avila, B.E., Koskela, J., Huang, H., Stevens, C.F., Pirinen, M., Haritunians, T., Neale, B.M., Kurki, M., Ganna, A., Graham, D., Glaser, B., Peter, I., Atzmon, G., Barzilai, N., Levine, A.P., Schiff, E., Pontikos, N., Weisburd, B., Lek, M., Karczewski, K.J., Bloom, J., Minikel, E.V., Petersen, B.-S., Beaugerie, L., Seksik, P., Cosnes, J., Schreiber, S., Bokemeyer, B., Bethge, J., Heap, G., Ahmad, T., Plagnol, V., Segal, A.W., Targan, S., Turner, D., Saavalainen, P., Farkkila, M., Kontula, K., Palotie, A., Brant, S.R., Duerr, R.H., Silverberg, M.S., Rioux, J.D., Weersma, R.K., Franke, A., Jostins, L., Anderson, C.A., Barrett, J.C., MacArthur, D.G., Jalas, C., Sokol, H., Xavier, R.J., Pulver, A., Cho, J.H., McGovern, D.P.B., Daly, M.J., International IBD Genetics Consortium (IIBDGC) (Gieger, C., Winkelmann, J.), T2D-GENES Consortium (Schwarzmayr, T., Hrabě de Angelis, M., Thorand, B., Meisinger, C., Peters, A., Grallert, H., Strauch, K., Strom, T.M., Meitinger, T.)

المصدر: PLoS Genet. 14:e1007329 (2018)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29795570; info:eu-repo/semantics/altIdentifier/wos/undefined; info:eu-repo/semantics/altIdentifier/isbn/1553-7390; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=53597Test; urn:isbn:1553-7390; urn:issn:1553-7390; urn:issn:1553-7404

الإتاحة: https://doi.org/10.1371/journal.pgen.1007329Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=53597Test

المؤلفون: Van den Bergh, P.Y.K., Sznajer, Y., Van Parys, V., van Tol, W., Wevers, R.A., Lefeber, D.J., Xu, L., Lek, M., MacArthur, D.G., Johnson, K., Phillips, L., Töpf, A., Straub, V.

المصدر: Neuromuscular Disorders ; volume 28, issue 1, page 101 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2017.11.012Test
https://api.elsevier.com/content/article/PII:S096089661731475X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S096089661731475X?httpAccept=text/plainTest

المؤلفون: Kim, J.-H. (Jung-Hyun), Shinde, D.N. (Deepali N.), Reijnders, M.R.F. (Margot R.F.), Hauser, N.S. (Natalie S.), Belmonte, R.L. (Rebecca L.), Wilson, G.R. (Gregory R.), Bosch, D.G.M. (Daniëlle G.M.), Bubulya, P.A. (Paula A.), Shashi, V. (Vandana), Petrovski, S. (Slavé), Stone, J.K. (Joshua K.), Park, E.Y. (Eun Young), Veltman, J.A. (Joris), Sinnema, M. (Margje), Stumpel, C. (Connie), Draaisma, J. (Jos), Nicolai, J. (Joost), Yntema, H.G., Lindstrom, K. (Kristin), Vries, B. (Boukje) de, Jewett, T. (Tamison), Santoro, S.L. (Stephanie L.), Vogt, J. (Julie), Bachman, K.K. (Kristine K.), Seeley, A.H. (Andrea ), Krokosky, A. (Alyson), Turner, C. (Clesson), Rohena, L. (Luis), Hempel, M. (Maja), Kortüm, F. (Fanny), Lessel, D. (Davor), Neu, A. (Axel), Strom, T.M. (Tim), Wieczorek, D. (Dagmar), Bramswig, N. (Nuria), Laccone, F.A. (Franco A.), Behunova, J. (Jana), Rehder, H. (Helga), Gordon, C.T. (Christopher T.), Rio, M. (Marlène), Romana, S. (Serge), Tang, S. (Sha), El-Khechen, D. (Dima), Cho, M.T. (Megan T.), McWalter, K. (Kirsty), Douglas, G. (Ganka), Baskin, B. (Berivan), Begtrup, A. (Amber), Funari, T. (Tara), Schoch, K. (Kelly), Stegmann, A.P.A. (Alexander P.A.), Stevens, S.J., Zhang, D.-E. (Dong-Er), Traver, D. (David), Yao, X. (Xu), MacArthur, D.G. (Daniel G.), Brunner, H.G., Mancini, G.M.S. (Grazia), Myers, R.H. (Richard), Owen, L.B. (Laurie B.), Lim, S.-T. (Ssang-Taek), Stachura, D.L. (David L.), Vissers, L.E.L.M., Ahn, E.-Y.E. (Eun-Young Erin)

المصدر: American Journal of Human Genetics

العلاقة: http://repub.eur.nl/pub/95565Test; urn:hdl:1765/95565

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.06.029Test
http://repub.eur.nl/pub/95565Test

المؤلفون: Minikel, E.V. (Eric Vallabh), Vallabh, S.M. (Sonia M.), Lek, M. (Monkol), Estrada Gil, K. (Karol), Samocha, K.E. (Kaitlin E.), Sathirapongsasuti, J.F. (J. Fah), McLean, C.Y. (Cory Y.), Tung, J.Y. (Joyce Y.), Yu, L.P.C. (Linda P. C.), Gambetti, P. (Pierluigi), Blevins, J. (Janis), Zhang, S. (Shulin), Cohen, Y. (Yvonne), Chen, W. (Wei), Yamada, M., Hamaguchi, T. (Tsuyoshi), Sanjo, N. (Nobuo), Mizusawa, H. (Hidehiro), Nakamura, Y. (Yosikazu), Kitamoto, T. (Tetsuyuki), Collins, S.J. (Steven), Boyd, A. (Alison), Will, R.G. (Robert G.), Knight, R. (Richard), Ponto, C. (Claudia), Zerr, I. (Inga), Kraus, T.F.J. (Theo F.J.), Eigenbrod, S. (Sabina), Giese, A. (Armin), Calero, M. (Miguel), Pedro-Cuesta, J. (Jesús) de, Haik, S., Laplanche, J.-L. (Jean-Louis), Bouaziz-Amar, E. (Elodie), Brandel, J-P. (Jean-Philippe), Capellari, S. (Sabina), Parchi, P. (Piero), Poleggi, A. (Anna), Ladogana, A. (Anna), O'Donnell-Luria, A.H. (Anne H.), Karczewski, K.J. (Konrad), Marshall, J.L. (Jamie L.), Boehnke, M. (Michael), Laakso, M. (Markku), Mohlke, K.L. (Karen), Kähler, J. (Jan), Chambert, K. (Kimberly), McCarroll, S.A. (Steven), Sullivan, P.F. (Patrick F.), Hultman, C.M. (Christina), Purcell, S. (Shaun), Sklar, P. (Pamela), Lee, S.J. (Sven) van der, Rozemuller, A.J.M. (Annemieke), Jansen, C. (Casper), Hofman, A. (Albert), Kraaij, R. (Robert), Rooij, J.G.J. (Jeroen) van, Ikram, M.A. (Arfan), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Daly, M.J. (Mark), MacArthur, D.G. (Daniel G.)

المصدر: Science Translational Medicine vol. 8 no. 322

العلاقة: http://repub.eur.nl/pub/88712Test; urn:hdl:1765/88712

الإتاحة: https://doi.org/10.1126/scitranslmed.aad5169Test
http://repub.eur.nl/pub/88712Test

المؤلفون: Dickinson, M.E., Flenniken, A.M., Ji, X., Teboul, L., Wong, M.D., White, J.K., Meehan, T.F., Weninger, W.J., Westerberg, H., Adissu, H.A., Baker, C.N., Bower, L., Brown, J.M., Caddle, L.B., Chiani, F., Clary, D., Cleak, J., Daly, M.J., Denegre, J.M., Doe, B., Dolan, M.E., Edie, S.M., Fuchs, H., Gailus-Durner, V., Galli, A., Gambadoro, A., Gallegos, J., Guo, S., Horner, N.R., Hsu, C.W., Johnson, S.J., Kalaga, S., Keith, L.C., Lanoue, L., Lawson, T.N., Lek, M., Mark, M., Marschall, S., Mason, J., McElwee, M.L., Newbigging, S., Nutter, L.M., Peterson, K.A., Ramirez-Solis, R., Rowland, D.J., Ryder, E., Samocha, K.E., Seavitt, J.R., Selloum, M., Szoke-Kovacs, Z., Tamura, M., Trainor, A.G., Tudose, I., Wakana, S., Warren, J., Wendling, O., West, D.B., Wong, L.J., Yoshiki, A., MacArthur, D.G., Tocchini-Valentini, G.P., Gao, X., Flicek, P., Bradley, A., Skarnes, W.C., Justice, M.J., Parkinson, H.E., Moore, M., Wells, S., Braun, R.E., Svenson, K.L., Hrabě de Angelis, M., Herault, Y., Mohun, T., Mallon, A.M., Henkelman, R.M., Brown, S.D., Adams, D.J., Lloyd, K.C.K., McKerlie, C., Beaudet, A.L., Bucan, M., Murray, S.A.

المصدر: Nature 537, 508-514 (2016)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27626380; info:eu-repo/semantics/altIdentifier/wos/WOS:000383545900047; info:eu-repo/semantics/altIdentifier/isbn/0028-0836; info:eu-repo/semantics/altIde; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49486Test; urn:isbn:0028-0836; urn:issn:0028-0836; urn:issn:1476-4687

الإتاحة: https://doi.org/10.1038/nature19356Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49486Test