المؤلفون: Panagiotakaki, E., De Grandis, E., Stagnaro M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC Consortium, French AHC Consortium, International AHC Consortium. Collaborators: Bassi MT, Borgatti R, Cernetti R, Di Rosa G, Franchini F, Gambardella A, Giacanelli M, Giannotta M, Gobbi G, Granata T, De Grandis E, Guerrini R, Gurrieri F, Incorpora G, Nardocci N, Neri G, Ragona F, Santucci M, Sartori S, Stagnaro M, Tiziano D, Vavassori R, Veneselli E, Vigevano F, Zucca C, Aicardi J, An I, Arbues AS, Arzimanoglou A, Bahi- Buisson N, Barthez MA, Billette de Villemeur T, Bourgeois M, Bru M, Chabrol B, Chaigne D, Chaunu MP, Chiron C, Cournelle AM, Davoine CS, De St Martin A, Deny B, Desguerres I, Des Portes V, Doummar D, Dulac O, Dusser A, Gerard M, Gitiaux C, Godet Kiesel I, Gokben S, Goutieres F, Guerrin MH, Heron-Longe B, Hubsch-Bonneaud C, Hully M, Husson M, Ioos Ch, Kaminska A, Laroche C, Lazaro L, Lepine A, Magy L, Marchal C, Michel J, Milh M, Motte J, Moutard ML, Napuri S, Nassogne MC, Neau JP, Nicole S, Panagiotakaki E, Passemard S, Pedespan JM, Penniello- Valette MJ, Poncelin D, Ponsot G, Poulat AL, Pouplard F, Rabilloud M, Riant F, Rivier F, Roelens P, Roubergue A, Sanlaville D, Tardieu M, Veyrieres S, de Grandis E, Fons C, Sisodiya S, de Jonghe P, Goubeau C, van den Maagdenberg AM, Mikati M, Scheffer I, Nevsimalova S, Kemlink D, Krepelova A, Kolnikova M, Sykora P, Kaski J, Hanna M, Houlden H, Ulate-Campos A, Cancho R, Eiris J, López-Laso E, Velázquez R, Carilho I, Ozelius L, Suls A, Ceulemans B, Buyse G, di Michele M, Ferrari M, Peeters-Scholte CM.

المساهمون: Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross, H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg, A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC, Consortium, French AHC, Consortium, International AHC Consortium., Collaborators: Bassi MT, Borgatti, R, Cernetti, R, Di Rosa, G, Franchini, F, Gambardella, A, Giacanelli, M, Giannotta, M, Gobbi, G, Granata, T, De Grandis, E, Guerrini, R, Gurrieri, F, Incorpora, G, Nardocci, N, Neri, G, Ragona, F, Santucci, M, Sartori, S, Stagnaro, M, Tiziano, D, Vavassori, R, Veneselli, E, Vigevano, F, Zucca, C, Aicardi, J, An, I, Arbues, A, Arzimanoglou, A, Bahi- Buisson, N, Barthez, Ma, Billette de Villemeur, T, Bourgeois, M, Bru, M, Chabrol, B, Chaigne, D, Chaunu, Mp, Chiron, C, Cournelle, Am, Davoine, C, De St Martin, A, Deny, B, Desguerres, I, Des Portes, V, Doummar, D, Dulac, O, Dusser, A, Gerard, M, Gitiaux, C, Godet Kiesel, I, Gokben, S, Goutieres, F, Guerrin, Mh, Heron-Longe, B, Hubsch-Bonneaud, C, Hully, M, Husson, M, Ioos, Ch, Kaminska, A, Laroche, C, Lazaro, L, Lepine, A, Magy, L, Marchal, C, Michel, J

مصطلحات موضوعية: Alternating hemiplegia of childhood, ATP1A3, Genotype-phenotype

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26410222; info:eu-repo/semantics/altIdentifier/wos/WOS:000361722500001; volume:10; issue:Article number 123; firstpage:1; lastpage:13; numberofpages:13; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11570/3162131Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84942433711; https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0335-5Test

الإتاحة: https://doi.org/10.1186/s13023-015-0335-5Test
http://hdl.handle.net/11570/3162131Test

المؤلفون: Laquerriere, A., Maluenda, J., Camus, A., Fontenas, L., Dieterich, K., Nolent, F., Zhou, J., Monnier, N., Latour, P., Gentil, D., Heron, D., Desguerres, I., Landrieu, P., Beneteau, C., Delaporte, B., Bellesme, C., Baumann, C., Capri, Y., Goldenberg, A., Lyonnet, S., Bonneau, D., Estournet, B., Quijano-Roy, S., Francannet, C., Odent, S., Saint-Frison, M.-H., Sigaudy, S., Figarella-Branger, D., Gelot, A., Mussini, J.-M., Lacroix, C., Drouin-Garraud, V., Malinge, M.-C., Attie-Bitach, T., Bessieres, B., Bonniere, M., Encha-Razavi, F., Beaufrere, A.-M., Khung-Savatovsky, S., Perez, M. J., Vasiljevic, A., Mercier, S., Roume, J., Trestard, L., Saugier-Veber, P., Cordier, M.-P., Layet, V., Legendre, M., Vigouroux-Castera, A., Lunardi, J.

المصدر: Human Molecular Genetics ; volume 23, issue 9, page 2279-2289 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddt618Test
http://academic.oup.com/hmg/article-pdf/23/9/2279/14142676/ddt618.pdfTest

المؤلفون: Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Perez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Megarbane A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Riviere JB, Faivre L, Thauvin-Robinet C

المساهمون: Bruel, Al, Franco, B, Duffourd, Y, Thevenon, J, Jego, L, Lopez, E, Deleuze, Jf, Doummar, D, Giles, Rh, Johnson, Ca, Huynen, Ma, Chevrier, V, Burglen, L, Morleo, M, Desguerres, I, Pierquin, G, Doray, B, Gilbert-Dussardier, B, Reversade, B, Steichen-Gersdorf, E, Baumann, C, Panigrahi, I, Fargeot-Espaliat, A, Dieux, A, David, A, Goldenberg, A, Bongers, E, Gaillard, D, Argente, J, Aral, B, Gigot, N, St-Onge, J, Birnbaum, D, Phadke, Sr, Cormier-Daire, V, Eguether, T, Pazour, Gj, Herranz-Perez, V, Goldstein, J, Pasquier, L, Loget, P, Saunier, S, Megarbane, A, Rosnet, O, Leroux, Mr, Wallingford, Jb, Blacque, Oe, Nachury, Mv, Attie-Bitach, T, Riviere, Jb, Faivre, L, Thauvin-Robinet, C

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000402366500001; volume:54; issue:6; firstpage:371; lastpage:380; numberofpages:10; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11591/460236Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85019988128

الإتاحة: https://doi.org/10.1136/jmedgenet-2016-104436Test
http://hdl.handle.net/11591/460236Test

المؤلفون: Bruel, A-L, Franco, B, Duffourd, Y, Thevenon, J, Jego, L, Lopez, E, Deleuze, J-F, Doummar, D, Giles, RH, Johnson, CA, Huynen, MA, Chevrier, V, Burglen, L, Morleo, M, Desguerres, I, Pierquin, G, Doray, B, Gilbert-Dussardier, B, Reversade, B, Steichen-Gersdorf, E, Baumann, C, Panigrahi, I, Fargeot-Espaliat, A, Dieux, A, David, A, Goldenberg, A, Bongers, E, Gaillard, D, Argente, J, Aral, B, Gigot, N, St-Onge, J, Birnbaum, D, Phadke, SR, Cormier-Daire, V, Eguether, T, Pazour, GJ, Herranz-Pérez, V, Goldstein, JS, Pasquier, L, Loget, P, Saunier, S, Mégarbané, A, Rosnet, O, Leroux, MR, Wallingford, JB, Blacque, OE, Nachury, MV, Attie-Bitach, T, Rivière, J-B, Faivre, L, Thauvin-Robinet, C

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/130748/7/Bruel_2016_OFD_final.pdfTest; Bruel, A-L, Franco, B, Duffourd, Y et al. (49 more authors) (2017) Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics, 54 (6). pp. 371-380. ISSN 0022-2593

الإتاحة: https://eprints.whiterose.ac.uk/130748Test/
https://eprints.whiterose.ac.uk/130748/7/Bruel_2016_OFD_final.pdfTest

المؤلفون: Darmency Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Rodriguez D, Lacombe D, Desguerres I, Cormier Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attié Bitach T, Thauvin Robinet C., FRANCO, BRUNELLA

المساهمون: Darmency Stamboul, V, Burglen, L, Lopez, E, Mejean, N, Dean, J, Franco, Brunella, Rodriguez, D, Lacombe, D, Desguerres, I, Cormier Daire, V, Doray, B, Pasquier, L, Gonzales, M, Pastore, M, Crenshaw, Ml, Huet, F, Gigot, N, Aral, B, Callier, P, Faivre, L, Attié Bitach, T, Thauvin Robinet, C.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000324893400005; volume:56; issue:6; firstpage:301; lastpage:308; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11588/560299Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84878478697

الإتاحة: https://doi.org/10.1016/j.ejmg.2013.03.004Test
http://hdl.handle.net/11588/560299Test

المؤلفون: Servais, L., Canal, A., De Coninck, N., Mesdelices, A., Desguerres, I., Quijnao-Roy, S., Mahmoudi, S., Estournet, B., Mayer, M., Noel, C. Themar, Voit, T., Hogrel, J.Y.

المصدر: Neuromuscular Disorders ; volume 20, issue 9-10, page 669 ; ISSN 0960-8966

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

الإتاحة: https://doi.org/10.1016/j.nmd.2010.07.232Test
https://api.elsevier.com/content/article/PII:S0960896610005031?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896610005031?httpAccept=text/plainTest

المؤلفون: Sedel, F., Barnerias, C., Dubourg, O., Desguerres, I., Lyon‐Caen, O., Saudubray, Jean‐Marie

المصدر: Journal of Inherited Metabolic Disease ; volume 30, issue 5, page 642-653 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1007/s10545-007-0684-xTest

المؤلفون: M�garban�, A., Desguerres, I., Rizkallah, E., Delague, V., Nabbout, R., Barois, A., Urtizberea, A.

المصدر: American Journal of Medical Genetics ; volume 92, issue 2, page 117-121 ; ISSN 0148-7299 1096-8628

الإتاحة: https://doi.org/10.1002Test/(sici)1096-8628(20000515)92:2%3C117::aid-ajmg7%3E3.0.co%3B2-c

المؤلفون: Rodriguez, D, Lemaitre, A, Desguerres, I, Boespflug-Tanguy, O, Ponsot, G, Mayer, M

المصدر: Neurophysiologie Clinique/Clinical Neurophysiology ; volume 27, issue 2, page 163 ; ISSN 0987-7053

مصطلحات موضوعية: Physiology (medical), Neurology (clinical), Neurology, General Medicine

الإتاحة: https://doi.org/10.1016/s0987-7053Test(97)85713-9
https://api.elsevier.com/content/article/PII:S0987705397857139?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0987705397857139?httpAccept=text/plainTest

المؤلفون: Steiner, J., Adamsbaum, C., Desguerres, I., Lalande, G., Raynaud, R., Ponsot, G., Kalifa, G.

المصدر: Pediatric Radiology ; volume 26, issue 11, page 763-768 ; ISSN 0301-0449 1432-1998

مصطلحات موضوعية: Radiology, Nuclear Medicine and imaging, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/bf01396196Test