المؤلفون: Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y.

المساهمون: Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformatica (España), Ministry of Health (República Checa), Ministry of Education, Youth and Sports (República Checa), Denomme-Pichon, A. -S., Bruel, A. -L., Duffourd, Y., Safraou, H., Thauvin-Robinet, C., Tran Mau-Them, F., Philippe, C., Vitobello, A., Jean-Marcais, N., Moutton, S., Thevenon, J., Faivre, L., Matalonga, L., de Boer, E., Gilissen, C., Hoischen, A., Kleefstra, T., Pfundt, R., de Vries, B. B. A., Willemsen, M. H., Vissers, L. E. L. M., Jackson, A., Banka, S., Clayton-Smith, J., Benetti, E., Fallerini, C., Renieri, A., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Ellwanger, K., Graessner, H., Haack, T. B., Zurek, B., Havlovicova, M., Macek, M., Ryba, L., Schwarz, M., Votypka, P., Lopez-Martin, E., Posada, M., Mencarelli, M. A., Rooryck, C., Trimouille, A., Verloes, A., Abbott, K. M., Kerstjens, M., Martin, E. L., Maystadt, I., Morleo, M., Nigro, V., Pinelli, M., Riess, O., Agathe, J. -M. D. S., Santen, G. W. E., Thauvin, C., Torella, A., Vissers, L., Zguro, K., Boer, E. D., Cohen, E., Danis, D., Gao, F., Horvath, R., Johari, M., Johanson, L., Li, S., Morsy, H., Nelson, I., Paramonov, I., te Paske, I. B. A. W., Robinson, P., Savarese, M., Steyaert, W., Topf, A., van der Velde, J. K., Vandrovcova, J., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Xu, J., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Lerche, H., Kegele, J., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., 't Hoen, P. A. C., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., Steehouwer, M., Yaldiz, B., Brookes, A. J., Veal, C., Gibson, S., Maddi, V., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Manera, J. D., Hambleton, S., Engelhardt, K., Alexander, E., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Fernandez-Callejo, M., Hernandez, C., Pico, D., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Lagorce, D., Hongnat, O., Chahdil, M., Lebreton, E., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Ben Yaou, R., Metay, C., Eymard, B., Atalaia, A., Stojkovic, T., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Liskova, P., Dolezalova, P., Parkinson, H., Keane, T., Freeberg, M., Thomas, C., Spalding, D., Robert, G., Costa, A., Patch, C., Hanna, M., Houlden, H., Reilly, M., Efthymiou, S., Cali, E., Magrinelli, F., Sisodiya, S. M., Rohrer, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., de Vries, G., De Winter, J., Beijer, D., de Jonghe, P., Van de Vondel, L., De Ridder, W., Weckhuysen, S., Mutarelli, M., Varavallo, A., Banfi, S., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Gualandi, F., Bigoni, S., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Vries, G., Neerincx, P. B., Ruvolo, D., Kerstjens Frederikse, W. S., Zonneveld-Huijssoon, E., Roelofs-Prins, D., van Gijn, M., Kohler, S., Metcalfe, A., Drunat, S., Heron, D., Mignot, C., Keren, B., Lacombe, D., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Cilio, M. -R., Carpancea, E., Depondt, C., Lederer, D., Sznajer, Y., Duerinckx, S., Mary, S., Macaya, A., Cazurro-Gutierrez, A., Perez-Duenas, B., Munell, F., Jarava, C. F., Maso, L. B., Marce-Grau, A., Colobran, R., Hackman, P., Udd, B., Hemelsoet, D., Dermaut, B., Schuermans, N., Poppe, B., Verdin, H., Osorio, A. N., Depienne, C., Roos, A., Cordts, I., Deschauer, M., Striano, P., Zara, F., Riva, A., Iacomino, M., Uva, P., Scala, M., Scudieri, P., Basak, A. N., Claeys, K., Boztug, K., Haimel, M., W. E, G., Ruivenkamp, C. A. L., Natera de Benito, D., Thompson, R., Polavarapu, K., Grimbacher, B., Zaganas, I., Kokosali, E., Lambros, M., Evangeliou, A., Spilioti, M., Kapaki, E., Bourbouli, M., Balicza, P., Molnar, M. J., De la Paz, M. P., Sanchez, E. B., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Schrock, E., Rump, A., Mei, D., Vetro, A., Balestrini, S., Guerrini, R., Chinnery, P. F., Ratnaike, T., Schon, K., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., May, P., Beeson, D., Cossins, J., Furini, S., Afenjar, A., Goldenberg, A., Masurel, A., Phan, A., Dieux-Coeslier, A., Fargeot, A., Guerrot, A. -M., Toutain, A., Molin, A., Sorlin, A., Putoux, A., Jouret, B., Laudier, B., Demeer, B., Doray, B., Bonniaud, B., Isidor, B., Gilbert-Dussardier, B., Leheup, B., Reversade, B., Paul, C., Vincent-Delorme, C., Neiva, C., Poirsier, C., Quelin, C., Chiaverini, C., Coubes, C., Francannet, C., Colson, C., Desplantes, C., Wells, C., Goizet, C., Sanlaville, D., Amram, D., Lehalle, D., Genevieve, D., Gaillard, D., Zivi, E., Sarrazin, E., Steichen, E., Schaefer, E., Lacaze, E., Jacquemin, E., Bongers, E., Kilic, E., Colin, E., Giuliano, F., Prieur, F., Laffargue, F., Morice-Picard, F., Petit, F., Cartault, F., Feillet, F., Baujat, G., Morin, G., Diene, G., Journel, H., Perthus, I., Lespinasse, J., Alessandri, J. -L., Amiel, J., Martinovic, J., Delanne, J., Albuisson, J., Lambert, L., Perrin, L., Ousager, L. B., Van Maldergem, L., Pinson, L., Ruaud, L., Samimi, M., Bournez, M., Bonnet-Dupeyron, M. N., Vincent, M., Jacquemont, M. -L., Cordier-Alex, M. -P., Gerard-Blanluet, M., Willems, M., Spodenkiewicz, M., Doco-Fenzy, M., Rossi, M., Renaud, M., Fradin, M., Mathieu, M., Holder-Espinasse, M. H., Houcinat, N., Hanna, N., Leperrier, N., Chassaing, N., Philip, N., Boute, O., Van Kien, P. K., Parent, P., Bitoun, P., Sarda, P., Vabres, P., Jouk, P. -S., Touraine, R., El Chehadeh, S., Whalen, S., Marlin, S., Passemard, S., Grotto, S., Bellanger, S. A., Blesson, S., Nambot, S., Naudion, S., Lyonnet, S., Odent, S., Attie-Bitach, T., Busa, T., Drouin-Garraud, V., Layet, V., Bizaoui, V., Cusin, V., Capri, Y., Alembik, Y., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

المصدر: Genetics in Medicine, 25
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018Test
Genetics in Medicine, 25, 4

مصطلحات موضوعية: Exome reanalysis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Developmental disorder, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology and Life Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], ClinVar, Rare diseases, All institutes and research themes of the Radboud University Medical Center, Medicine and Health Sciences, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Multidisciplinary, general & others [D99] [Human health sciences], Exome reanalysi, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595c5dc88c1376b42f99283c2dea407eTest
https://doi.org/10.1016/j.gim.2023.100018Test

المؤلفون: Fry, AE, Fawcett, KA, Zelnik, N, Yuan, H, Thompson, BAN, Shemer-Meiri, L, Cushion, TD, Mugalaasi, H, Sims, D, Stoodley, N, Chung, S-K, Rees, MI, Patel, CV, Brueton, LA, Layet, V, Giuliano, F, Kerr, MP, Banne, E, Meiner, V, Lerman-Sagie, T, Helbig, KL, Kofman, LH, Knight, KM, Chen, W, Kannan, V, Hu, C, Kusumoto, H, Zhang, J, Swanger, SA, Shaulsky, GH, Mirzaa, GM, Muir, AM, Mefford, HC, Dobyns, WB, Mackenzie, AB, Mullins, JGL, Lemke, JR, Bahi-Buisson, N, Traynelis, SF, Iago, HF, Pilz, DT

العلاقة: https://ora.ox.ac.uk/objects/uuid:02104970-55ea-411a-ac4b-9049096983f0Test; https://doi.org/10.1093/brain/awx358Test

الإتاحة: https://doi.org/10.1093/brain/awx358Test
https://ora.ox.ac.uk/objects/uuid:02104970-55ea-411a-ac4b-9049096983f0Test

المؤلفون: Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio MN, Männik K, van der Werf I, Giannuzzi G, Zazhytska M, Gheldof N, Migliavacca E, Alfaiz AA, Roberts Caldeira I, Hippolyte L, Maillard AM, Ferrarini A, Butschi FN, Conrad B, Addor MC, Belfiore M, Roetzer K, Dijck AV, Blaumeiser B, Kooy F, Roelens F, Dheedene A, Chiaie BD, Menten B, Oostra A, Caberg JH, Carter M, Kellam B, Stavropoulos DJ, Marshall C, Scherer SW, Weksberg R, Cytrynbaum C, Bassett A, Lowther C, Gillis J, MacKay S, Bache I, Ousager LB, Smerdel MP, Graakjaer J, Kjaergaard S, Metspalu A, Mathieu M, Bonneau D, Guichet A, Parent P, Férec C, Gerard M, Plessis G, Lespinasse J, Masurel A, Marle N, Faivre L, Callier P, Layet V, Meur NL, Le Goff C, Duban Bedu B, Sukno S, Boute O, Andrieux J, Blanchet P, Geneviève D, Puechberty J, Schneider A, Leheup B, Jonveaux P, Mercier S, David A, Le Caignec C, de Pontual L, Pipiras E, Jacquette A, Keren B, Gilbert Dussardier B, Bilan F, Goldenberg A, Chambon P, Toutain A, Till M, Sanlaville D, Leube B, Royer Pokora B, Grabe HJ, Schmidt CO, Schurmann C, Homuth G, Thorleifsson G, Thorsteinsdottir U, Bernardini L, Novelli A, Micale L, Merla G, Zollino M, MARI, FRANCESCA, Rizzo CL, RENIERI, ALESSANDRA, Silengo M, Vulto van Silfhout AT, Schouten M, Pfundt R, de Leeuw N, Vansenne F, Maas SM, Barge Schaapveld DQ, Knegt AC, Stadheim B, Rodningen O, Houge G, Price S, Hawkes L, Campbell C, Kini U, Vogt J, Walters R, Blakemore A, Gusella JF, Shen Y, Scott D, Bacino CA, Tsuchiya K, Ladda R, Sell S, Asamoah A, Hamati AI, Rosenfeld JA, Shaffer LG, Mitchell E, Hodge JC, Beckmann JS, Jacquemont S, Reymond A, Ewans LJ, Mowat D, Walker J, Amor DJ, Esch HV, Leroy P, Bamforth JS, Babu D, Isidor B, DiDonato N, Hackmann K, Passeggeri M, Haeringen AV, Smith R, Ellingwood S, Farber DM, Puri V, Zadeh N, Weaver DD, Miller M, Wilks T, Jorgez CJ, Lafayette D, Jacquemont S.

المساهمون: Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio, Mn, Männik, K, van der Werf, I, Giannuzzi, G, Zazhytska, M, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Roberts Caldeira, I, Hippolyte, L, Maillard, Am, Ferrarini, A, Butschi, Fn, Conrad, B, Addor, Mc, Belfiore, M, Roetzer, K, Dijck, Av, Blaumeiser, B, Kooy, F, Roelens, F, Dheedene, A, Chiaie, Bd, Menten, B, Oostra, A, Caberg, Jh, Carter, M, Kellam, B, Stavropoulos, Dj, Marshall, C, Scherer, Sw, Weksberg, R, Cytrynbaum, C, Bassett, A, Lowther, C, Gillis, J, Mackay, S, Bache, I, Ousager, Lb, Smerdel, Mp, Graakjaer, J, Kjaergaard, S, Metspalu, A, Mathieu, M, Bonneau, D, Guichet, A, Parent, P, Férec, C, Gerard, M, Plessis, G, Lespinasse, J, Masurel, A, Marle, N, Faivre, L, Callier, P, Layet, V, Meur, Nl, Le Goff, C, Duban Bedu, B, Sukno, S, Boute, O, Andrieux, J, Blanchet, P, Geneviève, D, Puechberty, J, Schneider, A, Leheup, B, Jonveaux, P

مصطلحات موضوعية: Molecular Biology, Cellular and Molecular Neuroscience, Psychiatry and Mental Health

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27240531; info:eu-repo/semantics/altIdentifier/wos/WOS:000401702800007; volume:22; issue:6; firstpage:836; lastpage:849; numberofpages:14; journal:MOLECULAR PSYCHIATRY; http://hdl.handle.net/11365/1010224Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84973140920; https://www.nature.com/articles/mp201684Test

الإتاحة: https://doi.org/10.1038/mp.2016.84Test
http://hdl.handle.net/11365/1010224Test
https://www.nature.com/articles/mp201684Test

المؤلفون: Del Giudice, E, Macca, M, Imperati, F, D'Amico, A, Parent, P, Pasquier, L, Layet, V, Lyonnet, S, Stamboul-Darmency, V, Thauvin-Robinet, C, Franco, B

المصدر: Orphanet journal of rare diseases. 9:74

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:128945243Test

المؤلفون: Burin des Roziers, C., Rothschild, P.R., Barjol, A., Clément, C.A., Edelson, C., Derrien, S., Metge, F., Michau, S., Robert, M., Prévot, C., Dollfus, H., Layet, V., Delphin, N., Bernardelli, M., Ghiotti, T., Hanein, S., Fourrage, C., Bonnefont, J.P., Rozet, J.M., Brézin, A., Caputo, G., Brémond‐Gignac, D., Valleix, S.

المصدر: Acta Ophthalmologica ; volume 95, issue S259 ; ISSN 1755-375X 1755-3768

الإتاحة: https://doi.org/10.1111/j.1755-3768.2017.02361Test

المؤلفون: Jacquemont, S, Reymond, A, Zufferey, F, Harewood, L, Walters, RG, Kutalik, Z, Martinet, D, Shen, YP, Valsesia, A, Beckmann, ND, Thorleifsson, G, Belfiore, M, Bouquillon, S, Campion, D, de Leeuw, N, de Vries, BBA, Esko, T, Fernandez, BA, Fernandez-Aranda, F, Fernandez-Real, JM, Gratacos, M, Guilmatre, A, Hoyer, J, Jarvelin, MR, Kooy, RF, Kurg, A, Le Caignec, C, Mannik, K, Platt, OS, Sanlaville, D, Van Haelst, MM, Gomez, SV, Walha, F, Wu, BL, Yu, YG, Aboura, A, Addor, MC, Alembik, Y, Antonarakis, SE, Arveiler, B, Barth, M, Bednarek, N, Bena, F, Bergmann, S, Beri, M, Bernardini, L, Blaumeiser, B, Bonneau, D, Bottani, A, Boute, O, Brunner, HG, Cailley, D, Callier, P, Chiesa, J, Chrast, J, Coin, L, Coutton, C, Cuisset, JM, Cuvellier, JC, David, A, de Freminville, B, Delobel, B, Delrue, MA, Demeer, B, Descamps, D, Didelot, G, Dieterich, K, Disciglio, V, Doco-Fenzy, M, Drunat, S, Duban-Bedu, B, Dubourg, C, Moustafa, JSE, Elliott, P, Faas, BHW, Faivre, L, Faudet, A, Fellmann, F, Ferrarini, A, Fisher, R, Flori, E, Forer, L, Gaillard, D, Gerard, M, Gieger, C, Gimelli, S, Gimelli, G, Grabe, HJ, Guichet, A, Guillin, O, Hartikainen, AL, Heron, D, Hippolyte, L, Holder, M, Homuth, G, Isidor, B, Jaillard, S, Jaros, Z, Jimenez-Murcia, S, Helas, GJ, Jonveaux, P, Kaksonen, S, Keren, B, Kloss-Brandstatter, A, Knoers, NVAM, Koolen, DA, Kroisel, PM, Kronenberg, F, Labalme, A, Landais, E, Lapi, E, Layet, V, Legallic, S, Leheup, B, Leube, B, Lewis, S, Lucas, J, MacDermot, KD, Magnusson, P, Marshall, C, Mathieu-Dramard, M, McCarthy, MI, Meitinger, T, Mencarelli, MA, Merla, G, Moerman, A, Mooser, V, Morice-Picard, F, Mucciolo, M, Nauck, M, Ndiaye, NC, Nordgren, A, Pasquier, L, Petit, F, Pfundt, R, Plessis, G, Rajcan-Separovic, E, Ramelli, GP, Rauch, A, Ravazzolo, R, Reis, A, Renieri, A, Richart, C, Ried, JS, Rieubland, C, Roberts, W, Roetzer, KM, Rooryck, C, Rossi, M, Saemundsen, E, Satre, V, Schurmann, C, Sigurdsson, E, Stavropoulos, DJ, Stefansson, H, Tengstrom, C, Thorsteinsdottir, U, Tinahones, FJ, Touraine, R, Vallee, L, van Binsbergen, E, Van der Aa, N, Vincent-Delorme, C, Visvikis-Siest, S, Vollenweider, P, Volzke, H, Vulto-van Silfhout, AT, Waeber, G, Wallgren-Pettersson, C, Witwicki, RM, Zwolinksi, S, Andrieux, J, Estivill, X, Gusella, JF, Gustafsson, O, Metspalu, A, Scherer, SW, Stefansson, K, Blakemore, AIF, Beckmann, JS, Froguel, P

المصدر: Nature. 478(7367):97-U111

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:123351294Test

المؤلفون: Schrijver LH, Antoniou AC, Olsson H, Mooij TM, Roos-Blom M-J, Azarang L, Adlard J, Ahmed M, Barrowdale D, Davidson R, Donaldson A, Eeles R, Evans DG, Frost D, Henderson A, Izatt L, Ong K-R, Bonadona V, Coupier I, Faivre L, Fricker J-P, Gesta P, Jager A, Menko FH, Mourits MJE, Singer CF, Tan YY, Foretova L, Navratilova M, Schmutzler RK, Ellberg C, Gerdes A-M, Caldes T, Simard J, Olah E, Jakubowska A, Rantala J, Osorio A, Hopper JL, Phillips K-A, Milne RL, Beth Terry M, Nogues C, Engel C, Kast K, Goldgar DE, van Leeuwen FE, Easton DF, Andrieu N, Rookus MA, Laborde L, Pontois P, Breysse E, Berline M, Stoppa-Lyonnet D, Gauthier-Villars M, Buecher B, Colas C, Caron O, Mouret-Fourme E, Saule C, Lasset C, Dussard S, Berthet P, Luporsi E, Mari V, Gladieff L, Chieze-Valero S, Moretta J, Sobol H, Eisinger F, Popovici C, Longy M, Grivelli L, Soubrier F, Benusiglio P, Pujol P, Corsini C, Morin-Meschin M-E, Lortholary A, Adenis C, Maillez A, Nguyen TD, Delnatte C, Abadie C, Tinat J, Tennevet I, Maugard C, Bignon Y-J, Gay Bellile M, Penet C, Dreyfus H, Cohen-Haguenauer O, Gilbert B, Venat-Bouvet L, Leroux D, Legrand C, Zattara-Cannoni H, Layet V, Lacaze E, Fert-Ferrer S, Bera O, Gilbert-Dussardier B, Tougeron D, Lallaoui H, Hogervorst FBL, Adank MA, Schmidt MK, Jenner DJ, Collee JM, van den Ouweland AMW, Hooning MJ, Boere IA, van Asperen CJ, Devilee P, van der Luijt RB, van Cronenburg TCTEF, Wevers MR, Mensenkamp AR, Ausems MGEM, Koudijs MJ, van de Beek I, van Engelen K, Gille JJP, Gomez Garcia EB, Blok MJ, de Boer M, Berger LPV, van der Hout AH, de Bock GH, Siesling S, Verloop J, van den Broek EC

المصدر: American Journal of Obstetrics and Gynecology, 2021

وصف الملف: application/pdf

الإتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=273692/88F0C289-88E6-40C5-B890-AA2E68936844.pdf&pub_id=273692Test

المؤلفون: Pacot, L., Vidaud, D., Sabbagh, A., Laurendeau, I., Briand-Suleau, A., Coustier, A., Maillard, T., Barbance, C., Morice-Picard, F., Sigaudy, S., Glazunova, O. O., Damaj, L., Layet, V., Quelin, C., Gilbert-Dussardier, B., Audic, F., Dollfus, H., Guerrot, A. M., Lespinasse, J., Julia, S., Vantyghem, Marie-Christine, Drouard, M., Lackmy, M., Leheup, B., Alembik, Y., Lemaire, A., Nitschke, P., Petit, Florence, Dieux, Anne, Mutez, Eugenie, Taieb, A., Fradin, M., Capri, Y., Nasser, H., Ruaud, L., Dauriat, B., Bourthoumieu, S., Genevieve, D., Audebert-Bellanger, S., Nizon, M., Stoeva, R., Hickman, G., Nicolas, G., Mazereeuw-Hautier, J., Jannic, A., Ferkal, S., Parfait, B., Vidaud, M., Wolkenstein, P., Pasmant, E.

المساهمون: Université de Lille, CHU Lille, Recherche translationnelle sur le diabète (RTD) - U1190, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Lille Neurosciences & Cognition (LilNCog) - U 1172

مصطلحات موضوعية: neurofibromatosis type 1, NF1, NF1 deletion, genotype-phenotype correlation, neurofibromas, NFs, malignant peripheral nerve sheath tumors, MPNSTs, tumor predisposition, learning disabilities, dysmorphism, skeletal abnormalities, cardiovascular abnormalities

العلاقة: Cancers; http://hdl.handle.net/20.500.12210/84173Test

الإتاحة: https://doi.org/20.500.12210/84173Test
https://hdl.handle.net/20.500.12210/84173Test

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: Gruchy, N., Vialard, F., Decamp, M., Choiset, A., Rossi, A., Le Meur, N., Moirot, H., Yardin, C., Bonnet-Dupeyron, M.N., Lespinasse, J., Herbaut-Graux, M., Till, M., Layet, V., Leporrier, N.

مصطلحات موضوعية: Reproductive genetics

وصف الملف: text/html

العلاقة: http://humrep.oxfordjournals.org/cgi/content/short/26/9/2570Test; http://dx.doi.org/10.1093/humrep/der193Test

الإتاحة: https://doi.org/10.1093/humrep/der193Test
http://humrep.oxfordjournals.org/cgi/content/short/26/9/2570Test