المؤلفون: Johannesen K. M., Gardella E., Gjerulfsen C. E., Bayat A., Rouhl R. P. W., Reijnders M., Whalen S., Keren B., Buratti J., Courtin T., Wierenga K. J., Isidor B., Piton A., Faivre L., Garde A., Moutton S., Tran-Mau-Them F., Denomme-Pichon A. -S., Coubes C., Larson A., Esser M. J., Appendino J. P., Al-Hertani W., Gamboni B., Mampel A., Mayorga L., Orsini A., Bonuccelli A., Suppiej A., Van-Gils J., Vogt J., Damioli S., Giordano L., Moortgat S., Wirrell E., Hicks S., Kini U., Noble N., Stewart H., Asakar S., Cohen J. S., Naidu S. R., Collier A., Brilstra E. H., Li M. H., Brew C., Bigoni S., Ognibene D., Ballardini E., Ruivenkamp C., Faggioli R., Afenjar A., Rodriguez D., Bick D., Segal D., Coman D., Gunning B., Devinsky O., Demmer L. A., Grebe T., Pruna D., Cursio I., Greenhalgh L., Graziano C., Singh R. R., Cantalupo G., Willems M., Yoganathan S., Goes F., Leventer R. J., Colavito D., Olivotto S., Scelsa B., Andrade A. V., Ratke K., Tokarz F., Khan A. S., Ormieres C., Benko W., Keough K., Keros S., Hussain S., Franques A., Varsalone F., Gronborg S., Mignot C., Heron D., Nava C., Isapof A., Borlot F., Whitney R., Ronan A., Foulds N., Somorai M., Brandsema J., Helbig K. L., Helbig I., Ortiz-Gonzalez X. R., Dubbs H., Vitobello A., Anderson M., Spadafore D., Hunt D., Moller R. S., Rubboli G.

المساهمون: Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denomme-Pichon, A. -S., Coubes, C., Larson, A., Esser, M. J., Appendino, J. P., Al-Hertani, W., Gamboni, B., Mampel, A., Mayorga, L., Orsini, A., Bonuccelli, A., Suppiej, A., Van-Gils, J., Vogt, J., Damioli, S., Giordano, L., Moortgat, S., Wirrell, E., Hicks, S., Kini, U., Noble, N., Stewart, H., Asakar, S., Cohen, J. S., Naidu, S. R., Collier, A., Brilstra, E. H., Li, M. H., Brew, C., Bigoni, S., Ognibene, D., Ballardini, E., Ruivenkamp, C., Faggioli, R., Afenjar, A., Rodriguez, D., Bick, D., Segal, D., Coman, D., Gunning, B., Devinsky, O., Demmer, L. A., Grebe, T., Pruna, D., Cursio, I., Greenhalgh, L., Graziano, C., Singh, R. R., Cantalupo, G., Willems, M., Yoganathan, S., Goes, F., Leventer, R. J., Colavito, D., Olivotto, S., Scelsa, B., Andrade, A. V., Ratke, K., Tokarz, F., Khan, A. S., Ormieres, C., Benko, W., Keough, K., Keros, S., Hussain, S., Franques, A., Varsalone, F., Gronborg, S., Mignot, C., Heron, D., Nava, C., Isapof, A., Borlot, F., Whitney, R., Ronan, A., Foulds, N., Somorai, M., Brandsema, J., Helbig, K. L., Helbig, I., Ortiz-Gonzalez, X. R., Dubbs, H., Vitobello, A.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34790866; info:eu-repo/semantics/altIdentifier/wos/WOS:000728252200016; volume:7; issue:6; firstpage:e613-1; lastpage:e613-14; numberofpages:14; journal:NEUROLOGY. GENETICS; https://hdl.handle.net/11392/2475339; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121913018; https://ng.neurology.org/content/7/6/e613

الاتاحة: https://hdl.handle.net/11392/2475339
https://doi.org/10.1212/NXG.0000000000000613
https://ng.neurology.org/content/7/6/e613

المؤلفون: Johannesen, KM, Gardella, E, Gjerulfsen, CE, Bayat, A, Rouhl, RPW, Reijnders, M, Whalen, S, Keren, B, Buratti, J, Courtin, T, Wierenga, KJ, Isidor, B, Piton, A, Faivre, L, Garde, A, Moutton, S, Tran-Mau-Them, F, Denomme-Pichon, A-S, Coubes, C, Larson, A, Esser, MJ, Appendino, JP, Al-Hertani, W, Gamboni, B, Mampel, A, Mayorga, L, Orsini, A, Bonuccelli, A, Suppiej, A, Van-Gils, J, Vogt, J, Damioli, S, Giordano, L, Moortgat, S, Wirrell, E, Hicks, S, Kini, U, Noble, N, Stewart, H, Asakar, S, Cohen, JS, Naidu, SR, Collier, A, Brilstra, EH, Li, MH, Brew, C, Bigoni, S, Ognibene, D, Ballardini, E, Ruivenkamp, C, Faggioli, R, Afenjar, A, Rodriguez, D, Bick, D, Segal, D, Coman, D, Gunning, B, Devinsky, O, Demmer, LA, Grebe, T, Pruna, D, Cursio, I, Greenhalgh, L, Graziano, C, Singh, RR, Cantalupo, G, Willems, M, Yoganathan, S, Goes, F, Leventer, RJ, Colavito, D, Olivotto, S, Scelsa, B, Andrade, AV, Ratke, K, Tokarz, F, Khan, AS, Ormieres, C, Benko, W, Keough, K, Keros, S, Hussain, S, Franques, A, Varsalone, F, Gronborg, S, Mignot, C, Heron, D, Nava, C, Isapof, A, Borlot, F, Whitney, R, Ronan, A, Foulds, N, Somorai, M, Brandsema, J, Helbig, KL, Helbig, I, Ortiz-Gonzalez, XR, Dubbs, H, Vitobello, A, Anderson, M, Spadafore, D, Hunt, D, Moller, RS, Rubboli, G

Relation: pii: NG2020016527; Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denomme-Pichon, A. -S., Coubes, C. ,. Rubboli, G. (2021). PURA-Related Developmental and Epileptic Encephalopathy. NEUROLOGY-GENETICS, 7 (6), https://doi.org/10.1212/NXG.0000000000000613.; http://hdl.handle.net/11343/305478

الاتاحة: http://hdl.handle.net/11343/305478

المؤلفون: Engel C., Valence S., Delplancq G., Maroofian R., Accogli A., Agolini E., Alkuraya F. S., Baglioni V., Bagnasco I., Becmeur-Lefebvre M., Bertini E., Borggraefe I., Brischoux-Boucher E., Bruel A. -L., Brusco A., Bubshait D. K., Cabrol C., Cilio M. R., Cornet M. -C., Coubes C., Danhaive O., Delague V., Denomme-Pichon A. -S., Di Giacomo M. C., Doco-Fenzy M., Engels H., Cremer K., Gerard M., Gleeson J. G., Heron D., Goffeney J., Guimier A., Harms F. L., Houlden H., Iacomino M., Kaiyrzhanov R., Kamien B., Karimiani E. G., Kraus D., Kuentz P., Kutsche K., Lederer D., Massingham L., Mignot C., Morris-Rosendahl D., Nagarajan L., Odent S., Ormieres C., Partlow J. N., Pasquier L., Penney L., Philippe C., Piccolo G., Poulton C., Putoux A., Rio M., Rougeot C., Salpietro V., Scheffer I., Schneider A., Srivastava S., Straussberg R., Striano P., Valente E. M., Venot P., Villard L., Vitobello A., Wagner J., Wagner M., Zaki M. S., Zara F., Lesca G., Yassaee V. R., Miryounesi M., Hashemi-Gorji F., Beiraghi M., Ashrafzadeh F., Galehdari H., Walsh C., Novelli A., Tacke M., Sadykova D., Maidyrov Y., Koneev K., Shashkin C., Capra V., Zamani M., Van Maldergem L., Burglen L., Piard J.

المساهمون: Engel, C., Valence, S., Delplancq, G., Maroofian, R., Accogli, A., Agolini, E., Alkuraya, F. S., Baglioni, V., Bagnasco, I., Becmeur-Lefebvre, M., Bertini, E., Borggraefe, I., Brischoux-Boucher, E., Bruel, A. -L., Brusco, A., Bubshait, D. K., Cabrol, C., Cilio, M. R., Cornet, M. -C., Coubes, C., Danhaive, O., Delague, V., Denomme-Pichon, A. -S., Di Giacomo, M. C., Doco-Fenzy, M., Engels, H., Cremer, K., Gerard, M., Gleeson, J. G., Heron, D., Goffeney, J., Guimier, A., Harms, F. L., Houlden, H., Iacomino, M., Kaiyrzhanov, R., Kamien, B., Karimiani, E. G., Kraus, D., Kuentz, P., Kutsche, K., Lederer, D., Massingham, L., Mignot, C., Morris-Rosendahl, D., Nagarajan, L., Odent, S., Ormieres, C., Partlow, J. N., Pasquier, L., Penney, L., Philippe, C., Piccolo, G., Poulton, C., Putoux, A., Rio, M., Rougeot, C., Salpietro, V., Scheffer, I., Schneider, A., Srivastava, S., Straussberg, R., Striano, P., Valente, E. M., Venot, P., Villard, L., Vitobello, A., Wagner, J., Wagner, M., Zaki, M. S., Zara, F., Lesca, G., Yassaee, V. R., Miryounesi, M., Hashemi-Gorji, F., Beiraghi, M., Ashrafzadeh, F., Galehdari, H., Walsh, C., Novelli, A., Tacke, M., Sadykova, D., Maidyrov, Y., Koneev, K., Shashkin, C., Capra, V., Zamani, M., Van Maldergem, L., Burglen, L., Piard, J.

Relation: info:eu-repo/semantics/altIdentifier/pmid/37344571; volume:31; issue:9; firstpage:1023; lastpage:1031; numberofpages:9; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11571/1497647; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85163032567

الاتاحة: https://hdl.handle.net/11571/1497647
https://doi.org/10.1038/s41431-023-01410-z

المؤلفون: Calame, D.G., Guo, T., Wang, C., Garrett, L., Jolly, A., Dawood, M., Kurolap, A., Henig, N.Z., Fatih, J.M., Herman, I., Du, H., Mitani, T., Becker, L., Rathkolb, B., Gerlini, R., Seisenberger, C., Marschall, S., Hunter, J.V., Gerard, A., Heidlebaugh, A., Challman, T., Spillmann, R.C., Jhangiani, S.N., Coban-Akdemir, Z., Lalani, S., Liu, L., Revah-Politi, A., Iglesias, A., Guzman, E., Baugh, E., Boddaert, N., Rondeau, S., Ormieres, C., Barcia, G., Tan, Q.K.G., Thiffault, I., Pastinen, T., Sheikh, K., Biliciler, S., Mei, D., Melani, F., Shashi, V., Yaron, Y., Steele, M., Wakeling, E., Østergaard, E., Nazaryan-Petersen, L., Millan, F., Santiago-Sim, T., Thevenon, J., Bruel, A.L., Thauvin-Robinet, C., Popp, D., Platzer, K., Gawlinski, P., Wiszniewski, W., Marafi, D., Pehlivan, D., Posey, J.E., Gibbs, R.A., Gailus-Durner, V., Guerrini, R., Fuchs, H., Hrabě de Angelis, M., Hölter, S.M., Cheung, H.H., Gu, S., Lupski, J.R.

المصدر: Am. J. Hum. Genet. 110, 1394-1413 (2023)

مصطلحات موضوعية: Charcot-marie-tooth Disease, Dexd/h-box Rna Helicases, Dhx9, Dna Damage Repair, R-loops, Allelic Series, Epilepsy, Homologous Recombination, Neurodevelopmental Disorders, Neuropathy

Relation: info:eu-repo/semantics/altIdentifier/pmid/37467750; info:eu-repo/semantics/altIdentifier/wos/001054722500001; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics/alt

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68088
https://doi.org/10.1016/j.ajhg.2023.06.013

المؤلفون: Corvest, V., Blais, S., Dahmani, B., De Tersant, M., Etienney, A.-C., Maroni, A., Ormières, C., Roussel, A., Pondarré, C.

المصدر: Archives de Pédiatrie ; volume 25, issue 1, page 63-71 ; ISSN 0929-693X

الاتاحة: http://dx.doi.org/10.1016/j.arcped.2017.11.015
https://api.elsevier.com/content/article/PII:S0929693X17304773?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0929693X17304773?httpAccept=text/plain

المؤلفون: Migueres, M., Dakhil, J., Delageneste, R., Schwartz, C., Pech-Ormières, C., Petit Lévy, I., Pujazon, M.-C., Leneveu, H., Carme, S., Demonet, G., Leclercq, D., Didier, A.

المصدر: Revue des Maladies Respiratoires ; volume 26, issue 5, page 514-520 ; ISSN 0761-8425

الاتاحة: http://dx.doi.org/10.1016/s0761-8425(09)74670-4
https://api.elsevier.com/content/article/PII:S0761842509746704?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0761842509746704?httpAccept=text/plain

المؤلفون: Giordano‐Labadie, F., Pech‐Ormieres, C., Bazex, J.

المصدر: Contact Dermatitis ; volume 34, issue 1, page 61-62 ; ISSN 0105-1873 1600-0536

الاتاحة: http://dx.doi.org/10.1111/j.1600-0536.1996.tb02116.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1600-0536.1996.tb02116.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1600-0536.1996.tb02116.x

المؤلفون: Giordano-Labadie, F., Pech-Ormieres, C., Bazex, J.

المصدر: Contact Dermatitis (01051873); Jan1996, Vol. 34 Issue 1, p61-62, 2p

مصطلحات موضوعية: CONTACT dermatitis, SORBIC acid, URTICARIA, FOOD additives, ALLERGIES, FATTY acids, ESTERS