المؤلفون: Levy M. A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M. P., Cappuccio G., Ciolfi A., Clarke A., DuPont B. R., Elting M. W., Faivre L., Fee T., Fletcher R. S., Cherik F., Foroutan A., Friez M. J., Gervasini C., Haghshenas S., Hilton B. A., Jenkins Z., Kaur S., Lewis S., Louie R. J., Maitz S., Milani D., Morgan A. T., Oegema R., Østergaard E., Pallares N. R., Piccione M., Pizzi S., Plomp A. S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J. A., Mannens M. M. A. M., Roscioli T., Siu V., Amor D. J., Baynam G., Bend E. G., Boycott K., Brunetti-Pierri N., Campeau P. M., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Kerrnohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.

المساهمون: Levy M.A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M.P., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Fletcher R.S., Cherik F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Østergaard E., Pallares N.R., Piccione M., Pizzi S., Plomp A.S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Kerrnohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.

مصطلحات موضوعية: Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35047860; info:eu-repo/semantics/altIdentifier/wos/WOS:000787652900021; volume:3; issue:1; firstpage:100075; numberofpages:18; journal:HGG ADVANCES; https://hdl.handle.net/10447/620282Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128406827

الإتاحة: https://doi.org/10.1016Test/j.xhgg.2021.100075
https://hdl.handle.net/10447/620282Test

المؤلفون: Tejada, M. I., Villate, O., Ibarluzea, N., de la Hoz, A. B., Martínez-Bouzas, C., Beristain, E., Martínez, F., Friez, M. J., Sobrino, B., Barros Angueira, Francisco

مصطلحات موضوعية: FPGMX

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6836624/pdf/fgene-10-01074.pdfTest; https://www.ncbi.nlm.nih.gov/pubmed/31737052Test; http://hdl.handle.net/20.500.11940/15801Test; 31865

الإتاحة: https://doi.org/20.500.11940/15801Test
https://doi.org/10.3389/fgene.2019.01074Test
https://hdl.handle.net/20.500.11940/15801Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6836624/pdf/fgene-10-01074.pdfTest
https://www.ncbi.nlm.nih.gov/pubmed/31737052Test

المؤلفون: Levy M. A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B. R., Elting M. W., Faivre L., Fee T., Ferilli M., Fletcher R. S., Cherick F., Foroutan A., Friez M. J., Gervasini C., Haghshenas S., Hilton B. A., Jenkins Z., Kaur S., Lewis S., Louie R. J., Maitz S., Milani D., Morgan A. T., Oegema R., Ostergaard E., Pallares N. R., Piccione M., Plomp A. S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., John M. S., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T. B., Banka S., Gecz J., Henneman P., Lee J. A., Mannens M. M. A. M., Roscioli T., Siu V., Amor D. J., Baynam G., Bend E. G., Boycott K., Brunetti-Pierri N., Campeau P. M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Heron D., Husson T., Kernohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.

المساهمون: Levy M.A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Ferilli M., Fletcher R.S., Cherick F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Ostergaard E., Pallares N.R., Piccione M., Plomp A.S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., John M.S., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T.B., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Heron D., Husson T., Kernohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.

مصطلحات موضوعية: DNA methylation, clinical diagnostics, episignatures, neurodevelopmental syndromes

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35904121; info:eu-repo/semantics/altIdentifier/wos/WOS:000842416800001; volume:43; issue:11; firstpage:1609; lastpage:1628; numberofpages:20; journal:HUMAN MUTATION; https://hdl.handle.net/10447/579330Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136511967

الإتاحة: https://doi.org/10.1002/humu.24446Test
https://hdl.handle.net/10447/579330Test

المؤلفون: Velho, R. V., Harms, F. L., Danyukova, T., Ludwig, N. F., Friez, M. J., Cathey, S. S., Filocamo, M., Tappino, B., Gunes, N., Duran Saavedra, Gloria Patricia, Tuysuz, B., Tylee, K. L., Brammeier, K. L., Heptinstall, L., Oussoren, E., Van der Ploeg, A. T., Petersen, C., Alves, S., Schwartz, I. V., Muschol, N., Kutsche, K., Pohl, S.

مصطلحات موضوعية: Medicina y salud, Enfermedades metabólicas, Mutaciónlisosomas, Sistema nervioso

الوقت: 610

وصف الملف: 23 páginas; application/pdf

العلاقة: https://doi.org/10.1002/humu.23748Test; https://repositorio.uc.cl/handle/11534/60117Test

الإتاحة: https://doi.org/10.1002/humu.23748Test
https://repositorio.uc.cl/handle/11534/60117Test

المؤلفون: Helbig, K. L., Lauerer, R. J., Bahr, J. C., Souza, I. A., Myers, C. T., Uysal, B., Schwarz, N., Gandini, M. A., Huang, S., Keren, B., Mignot, C., Afenjar, A., de Villemeur, T. B., Heron, D., Nava, C., Valence, S., Buratti, J., Fagerberg, C. R., Soerensen, K. P., Kibaek, M., Kamsteeg, E. J., Koolen, D. A., Gunning, B., Schelhaas, H. J., Kruer, M. C., Fox, J., Bakhtiari, S., Jarrar, R., Padilla-Lopez, S., Lindstrom, K., Jin, S. C., Zeng, X., Bilguvar, K., Papavasileiou, A., Xin, Q. H., Zhu, Changlian, 1964, Boysen, K., Vairo, F., Lanpher, B. C., Klee, E. W., Tillema, J. M., Payne, E. T., Cousin, M. A., Kruisselbrink, T. M., Wick, M. J., Baker, J., Haan, E., Smith, N., Corbett, M. A., MacLennan, A. H., Gecz, J., Biskup, S., Goldmann, E., Rodan, L. H., Kichula, E., Segal, E., Jackson, K. E., Asamoah, A., Dimmock, D., McCarrier, J., Botto, L. D., Filloux, F., Tvrdik, T., Cascino, G. D., Klingerman, S., Neumann, C., Wang, R., Jacobsen, J. C., Nolan, M. A., Snell, R. G., Lehnert, K., Sadleir, L. G., Anderlid, B. M., Kvarnung, M., Guerrini, R., Friez, M. J., Lyons, M. J., Leonhard, J., Kringlen, G., Casas, K., El Achkar, C. M., Smith, L. A., Rotenberg, A., Poduri, A., Sanchis-Juan, A., Carss, K. J., Rankin, J., Zeman, A., Raymond, F. L., Blyth, M., Kerr, B., Ruiz, K., Urquhart, J., Hughes, I., Banka, S., Hedrich, U. B. S., Scheffer, I. E., Helbig, I., Zamponi, G. W., Lerche, H., Mefford, H. C., Deciphering Dev Disorders, Study

المصدر: American Journal of Human Genetics. 103(5):666-678

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, calcium-channel dysfunction, r-type, molecular pathology, ilae, commission, position paper, ca2+ channels, mice lacking, disorders, mutations, classification, Genetics & Heredity

الوصول الحر: https://gup.ub.gu.se/publication/273681Test

المؤلفون: Garbern, J Y, Neumann, M, Trojanowski, J Q, Lee, V M Y, Feldman, G, Norris, J W, Friez, M J, Schwartz, C E, Stevenson, R, Sima, A A F

المصدر: Garbern, J Y; Neumann, M; Trojanowski, J Q; Lee, V M Y; Feldman, G; Norris, J W; Friez, M J; Schwartz, C E; Stevenson, R; Sima, A A F (2010). A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition. Brain: A Journal of Neurology, 133(Pt 5):1391-1402.

مصطلحات موضوعية: Institute of Neuropathology, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/44243/12/Garbern_Brain_2010_V.pdfTest; info:pmid/20395263; urn:issn:0006-8950

الإتاحة: https://doi.org/10.5167/uzh-4424310.1093/brain/awq071Test
https://www.zora.uzh.ch/id/eprint/44243Test/
https://www.zora.uzh.ch/id/eprint/44243/12/Garbern_Brain_2010_V.pdfTest

المؤلفون: Cathey, S S, Leroy, J G, Wood, T, Eaves, K, Simensen, R J, Kudo, M, Stevenson, R E, Friez, M J

مصطلحات موضوعية: Original article

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/47/1/38Test; http://dx.doi.org/10.1136/jmg.2009.067736Test

الإتاحة: https://doi.org/10.1136/jmg.2009.067736Test
http://jmg.bmj.com/cgi/content/short/47/1/38Test

المؤلفون: Lyons, M J, Graham, J M, Neri, G, Hunter, A G W, Clark, R D, Rogers, R C, Moscarda, M, Boccuto, L, Simensen, R, Dodd, J, Robertson, S, DuPont, B R, Friez, M J, Schwartz, C E, Stevenson, R E

مصطلحات موضوعية: Original articles

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/46/1/9Test; http://dx.doi.org/10.1136/jmg.2008.060509Test

الإتاحة: https://doi.org/10.1136/jmg.2008.060509Test
http://jmg.bmj.com/cgi/content/short/46/1/9Test

المؤلفون: Mnatzakanian, G N, Lohi, H, Munteanu, I, Alfred, S E, Yamada, T, MacLeod, P J M, Jones, J R, Scherer, S W, Schanen, N C, Friez, M J, Vincent, J B, Minassian, B A

المصدر: Nature Genetics ; volume 36, issue 5, page 540-540 ; ISSN 1061-4036 1546-1718

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1038/ng0504-540bTest
http://www.nature.com/articles/ng0504-540b.pdfTest
http://www.nature.com/articles/ng0504-540bTest

المؤلفون: Leaphart, A. B., Friez, M. J., Lovell, C. R.

المصدر: Applied and Environmental Microbiology ; volume 69, issue 1, page 693-696 ; ISSN 0099-2240 1098-5336

الإتاحة: https://doi.org/10.1128/aem.69.1.693-696.2003Test