المؤلفون: Roubertie A, Hieu N, Roux C-J, Leboucq N, Manes G, Charif M, Echenne B, Goizet C, Guissart C, Meyer P, Marelli C, Rivier F, Burglen L, Horvath R, Hamel CP, Lenaers G

المصدر: Neurology: Genetics, 1 February 2018

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/249411; https://eprints.ncl.ac.uk/fulltext.aspx?url=249411/B1CF55DE-A9C1-4ADD-9CAD-7698077221F4.pdf&pub_id=249411

الاتاحة: https://eprints.ncl.ac.uk/249411

المؤلفون: Hu, H., Haas, S. A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A. P. M., Weinert, S., Froyen, G., Frints, S. G. M., Laumonnier, F., Zemojtel, T., Love, M. I., Richard, H., Emde, A-K, Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M. A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K. L., Belet, S., van Roozendaal, K. E. P., Jimenez-Pocquet, M., Moizard, M-P, Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., Van Boemmel, A., Goeke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Mueller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bielenska, A., Ousager, L. B., Wieacker, P., Criado, G. Rodriguez, Bondeson, M-L, Anneren, G., Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J-P, Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T. F., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T. J., Chen, W., Ropers, H-H, Kalscheuer, V. M.

المصدر: Hu , H , Haas , S A , Chelly , J , Van Esch , H , Raynaud , M , de Brouwer , A P M , Weinert , S , Froyen , G , Frints , S G M , Laumonnier , F , Zemojtel , T , Love , M I , Richard , H , Emde , A-K , Bienek , M , Jensen , C , Hambrock , M , Fischer , U , Langnick , C , Feldkamp , M , Wissink-Lindhout , W , Lebrun , N , Castelnau , L ....

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/700329b9-ddac-4e89-9e1e-bb23b2170f21
https://doi.org/10.1038/mp.2014.193

المؤلفون: Meyer, Pierre, Leboucq, N., Molinari, N., Roubertie, A., Carneiro, M., Walther-Louvier, U., Cuntz-Shadfar, D, Leydet, J, Cheminal, R, Cambonie, G., Echenne, B., Rondouin, G, Deiva, K., Mikaeloff, Y, Rivier, Francois

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Département de Neuroradiologie Montpellier, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Université de Montpellier (UM), Service de Néonatalogie, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Arnaud de Villeneuve CHU Montpellier, Service de Neuropédiatrie, Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Infectious Diseases Models for Innovative Therapies (IDMIT), Université Paris-Saclay-Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Troubles du comportement alimentaire de l'adolescent (UMR_S 669), Université Paris-Sud - Paris 11 (UP11)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 1352-4585.

مصطلحات موضوعية: pediatric, Multiple sclerosis, acute transverse myelitis, magnetic resonance imaging, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie

Relation: hal-02544667; https://hal.umontpellier.fr/hal-02544667; https://hal.umontpellier.fr/hal-02544667/document; https://hal.umontpellier.fr/hal-02544667/file/Meyer%20et%20al%20-%202014.pdf; PRODINRA: 282211; WOS: 000343623900012

الاتاحة: https://hal.umontpellier.fr/hal-02544667
https://hal.umontpellier.fr/hal-02544667/document
https://hal.umontpellier.fr/hal-02544667/file/Meyer%20et%20al%20-%202014.pdf
https://doi.org/10.1177/1352458514526943

المؤلفون: Rivier, Francois, Walther-Louvier, Ui, Chabrier, S, Cances, C, Espil, C, Carneiro, Maryline, Echenne, B, Meyer, Pierre

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)

المصدر: ISSN: 0929-693X.

مصطلحات موضوعية: [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]

Relation: hal-02544490; https://hal.umontpellier.fr/hal-02544490; https://hal.umontpellier.fr/hal-02544490/document; https://hal.umontpellier.fr/hal-02544490/file/Rivier%20et%20al%20-%202012.pdf

الاتاحة: https://hal.umontpellier.fr/hal-02544490
https://hal.umontpellier.fr/hal-02544490/document
https://hal.umontpellier.fr/hal-02544490/file/Rivier%20et%20al%20-%202012.pdf
https://doi.org/10.1016/S0929-693X(12)71123-5

المؤلفون: Roubertie, A., Echenne, B.

المصدر: Annals of Physical and Rehabilitation Medicine ; volume 55, page e225 ; ISSN 1877-0657

الاتاحة: http://dx.doi.org/10.1016/j.rehab.2012.07.569
https://api.elsevier.com/content/article/PII:S1877065712006641?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1877065712006641?httpAccept=text/plain

المؤلفون: Roubertie, A., Echenne, B.

المصدر: Annals of Physical and Rehabilitation Medicine ; volume 55, page e227 ; ISSN 1877-0657

الاتاحة: http://dx.doi.org/10.1016/j.rehab.2012.07.575
https://api.elsevier.com/content/article/PII:S1877065712006707?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1877065712006707?httpAccept=text/plain

المؤلفون: Roubertie, A., Soëte, S, Meyer, Pierre, Echenne, B., Rivier, Francois, Langlois, C.

المساهمون: Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Service de Neuropédiatrie, Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)

المصدر: ISSN: 0929-693X.

مصطلحات موضوعية: Déficit moteur aigu, Polyradiculonévrite, Myosite, Accident vasculaire ischémique, Thrombose veineuse cérébrale, ADEM, IRM, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]

Relation: hal-02544526; https://hal.umontpellier.fr/hal-02544526; https://hal.umontpellier.fr/hal-02544526/document; https://hal.umontpellier.fr/hal-02544526/file/Roubertie%20et%20al%20-%202010.pdf

الاتاحة: https://hal.umontpellier.fr/hal-02544526
https://hal.umontpellier.fr/hal-02544526/document
https://hal.umontpellier.fr/hal-02544526/file/Roubertie%20et%20al%20-%202010.pdf
https://doi.org/10.1016/j.arcped.2009.11.017

المؤلفون: Meyer, Pierre, Langlois, C., Soëte, S, Leydet, J, Echenne, B., Rivier, Francois, Bonafé, A., Roubertie, A.

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Service de Neuropédiatrie, Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Département de Neuroradiologie Montpellier, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Université de Montpellier (UM)

المصدر: ISSN: 0387-7604 ; Brain and Development ; https://hal.umontpellier.fr/hal-02544549 ; Brain and Development, 2010, ⟨10.1016/j.braindev.2009.11.011⟩.

مصطلحات موضوعية: Anesthesia, Developmental disabilities, Microcephaly, Propofol, Seizures, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]

Relation: hal-02544549; https://hal.umontpellier.fr/hal-02544549; https://hal.umontpellier.fr/hal-02544549/document; https://hal.umontpellier.fr/hal-02544549/file/Meyer%20et%20al%20-BrainDev-%202010.pdf

الاتاحة: https://hal.umontpellier.fr/hal-02544549
https://hal.umontpellier.fr/hal-02544549/document
https://hal.umontpellier.fr/hal-02544549/file/Meyer%20et%20al%20-BrainDev-%202010.pdf
https://doi.org/10.1016/j.braindev.2009.11.011

المؤلفون: Briñas, L., Richard, P., Quijano-Roy, S., Gartioux, C., Ledeuil, C., Lacène, E., Makri, S., Ferreiro, A., Maugenre, S., Topaloglu, H., Haliloglu, G., Pénisson-Besnier, I., Jeannet, P.Y., Merlini, L., Navarro, C., Toutain, A., Chaigne, D., Desguerre, I., de Die-Smulders, C., Dunand, M., Echenne, B., Eymard, B., Kuntzer, T., Maincent, K., Mayer, M., Plessis, G., Rivier, F., Roelens, F., Stojkovic, T., Lía Taratuto, A., Lubieniecki, F., Monges, S., Tranchant, C., Viollet, L., Romero, N.B., Estournet, B., Guicheney, P., Allamand, V.

المصدر: Annals of Neurology, vol. 68, no. 4, pp. 511-520

مصطلحات موضوعية: congenital muscular-dystrophy, messenger-rna decay, bethlem myopathy, vonwillebrand-factor, sequence-analysis, globular domains, ullrich-disease, col6a1 gene, mutations, severity

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/20976770; info:eu-repo/semantics/altIdentifier/pissn/1531-8249[electronic], 0364-5134[linking]; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_8CF325435E1C2; https://serval.unil.ch/notice/serval:BIB_8CF325435E1C; https://serval.unil.ch/resource/serval:BIB_8CF325435E1C.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_8CF325435E1C
https://doi.org/10.1002/ana.22087
https://serval.unil.ch/resource/serval:BIB_8CF325435E1C.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8CF325435E1C2

المؤلفون: Daoud, F., Angeard, N., Demerre, B., Martie, I., Benyaou, R., Leturcq, F., Cossee, M., Deburgrave, N., Saillour, Y., Tuffery, S., Urtizberea, A., Toutain, A., Echenne, B., Frischman, M., Mayer, M., Desguerre, I., Estournet, B., Reveillere, C., Penisson-Besnier, Cuisset, J. M., Kaplan, J. C., Heron, D., Rivier, F., Chelly, J.

المصدر: Human Molecular Genetics ; volume 18, issue 20, page 3779-3794 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddp320
http://academic.oup.com/hmg/article-pdf/18/20/3779/1811375/ddp320.pdf

المؤلفون: Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J.J., Neau, J.P., Parker, F., Tremoulet, M., Tournier-Lasserve, E.

المصدر: The American Journal of Human Genetics ; volume 76, issue 1, page 42-51 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1086/426952
https://api.elsevier.com/content/article/PII:S0002929707625427?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929707625427?httpAccept=text/plain

المؤلفون: des Portes, V., Francis, F., Pinard, J.-M., Desguerre, I., Moutard, M.-L., Snoeck, I., Meiners, L. C., Capron, F., Cusmai, R., Ricci, S., Motte, J., Echenne, B., Ponsot, G., Dulac, O., Chelly, J., Beldjord, C.

المصدر: Human Molecular Genetics ; volume 7, issue 7, page 1063-1070 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/7.7.1063
http://academic.oup.com/hmg/article-pdf/7/7/1063/1759141/7-7-1063.pdf

المؤلفون: Guipponi, M., Rivier, F., Vigevano, F., Beck, C., Crespel, A., Echenne, B., Lucchini, P., Sebastianelli, R., Baldy-Moulinier, M., Malafosse, A.

المصدر: Human Molecular Genetics ; volume 6, issue 3, page 473-477 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/6.3.473

المؤلفون: Soldovieri, Mv, Boutry Kryza, N, Milh, M, Doummar, D, Heron, B, Bourel, E, Ambrosino, P, De Maria, M, Dorison, N, Auvin, S, Echenne, B, Oertel, J, Riquet, A, Lambert, L, Gerard, M, Roubergue, A, Calender, A, Mignot, C, Lesca, G., MICELI, Francesco, TAGLIALATELA, MAURIZIO

المساهمون: Soldovieri, Mv, Boutry Kryza, N, Milh, M, Doummar, D, Heron, B, Bourel, E, Ambrosino, P, Miceli, Francesco, De Maria, M, Dorison, N, Auvin, S, Echenne, B, Oertel, J, Riquet, A, Lambert, L, Gerard, M, Roubergue, A, Calender, A, Mignot, C, Taglialatela, Maurizio, Lesca, G.

مصطلحات موضوعية: Benign, Familial, KCNQ2, KCNQ3, Neonatal epilepsy, Syntaxin-1A, Voltage-gated potassium channel, Animal, Biotinylation, CHO Cell, Cohort Studie, Cricetulu, Epilepsy, Benign Neonatal, Female, Gene Deletion, Germ-Line Mutation, Human, KCNQ2 Potassium Channel, KCNQ3 Potassium Channel, Male, Mutagenesis, Insertional, Pedigree, Sequence Alignment, Syntaxin 1, Genetic, Genetics (clinical)

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000331909600013; volume:35; issue:3; firstpage:356; lastpage:367; numberofpages:12; journal:HUMAN MUTATION; http://hdl.handle.net/11588/670041; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84893921173

الاتاحة: http://hdl.handle.net/11588/670041
https://doi.org/10.1002/humu.22500

المؤلفون: SOLDOVIERI, Maria Virginia, Boutry Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, TAGLIALATELA, Maurizio, Lesca G.

المساهمون: Soldovieri, Maria Virginia, Boutry Kryza, N, Milh, M, Doummar, D, Heron, B, Bourel, E, Ambrosino, P, Miceli, F, De Maria, M, Dorison, N, Auvin, S, Echenne, B, Oertel, J, Riquet, A, Lambert, L, Gerard, M, Roubergue, A, Calender, A, Mignot, C, Taglialatela, Maurizio, Lesca, G.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000331909600013; volume:35; issue:3; firstpage:356; lastpage:367; numberofpages:12; journal:HUMAN MUTATION; https://hdl.handle.net/11695/967; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84893921173

الاتاحة: https://hdl.handle.net/11695/967

المؤلفون: El Chehadeh, S., Faivre, L., Mosca-Boidron, A.L., Malan, V., Amiel, J., Nizon, M., Touraine, R., Prieur, F., Pasquier, L., Callier, P., Lefebvre, M., Marle, N., Dubourg, C., Julia, S., Sarret, C., Francannet, C., Laffargue, F., Boespflug-Tanguy, O., David, A., Isidor, B., Le Caignec, C., Vigneron, J., Leheup, B., Lambert, L., Philippe, C., Cuisset, J.M., Andrieux, J., Plessis, G., Toutain, A., Goldenberg, A., Cormier-Daire, V., Rio, M., Bonnefont, J.P., Thevenon, J., Echenne, B., Journel, H., Afenjar, A., Burglen, L., Bienvenu, T., Addor, M.C., Lebon, S., Martinet, D., Baumann, C., Perrin, L., Drunat, S., Jouk, P.S., Devillard, F., Coutton, C., Lacombe, D., Delrue, M.A., Philip, N., Moncla, A., Badens, C., Perreton, N., Masurel, A., Thauvin-Robinet, C., Des Portes, V., Guibaud, L.

المصدر: American Journal of Medical Genetics. Part A, vol. 170A, no. 1, pp. 116-129

مصطلحات موضوعية: Adolescent, Adult, Brain Diseases/genetics, Brain Diseases/pathology, Child, Preschool, Chromosomes, Human, X/genetics, Female, Gene Duplication, Genetic Association Studies, Genotype, Humans, Infant, Newborn, Magnetic Resonance Imaging/methods, Male, Mental Retardation, X-Linked/genetics, X-Linked/pathology, Methyl-CpG-Binding Protein 2/genetics, Middle Aged, Pedigree, Phenotype, Prognosis, Young Adult

Relation: info:eu-repo/semantics/altIdentifier/pmid/26420639; info:eu-repo/semantics/altIdentifier/eissn/1552-4833; https://serval.unil.ch/notice/serval:BIB_08C9E1B19BCA

الاتاحة: https://serval.unil.ch/notice/serval:BIB_08C9E1B19BCA
https://doi.org/10.1002/ajmg.a.37384

المؤلفون: Caraballo, R, Pavek, S, Lemainque, A, Gastaldi, M, Echenne, B, Motte, J, Genton, P, Cersósimo, R, Humbertclaude, V, Fejerman, N, Monaco, A, Lathrop, MG, Rochette, J, Szepetowski, P

Relation: https://ora.ox.ac.uk/objects/uuid:510d3a2b-6a9f-4600-a9d4-84493269417f; https://doi.org/10.1086/318805

الاتاحة: https://doi.org/10.1086/318805
https://ora.ox.ac.uk/objects/uuid:510d3a2b-6a9f-4600-a9d4-84493269417f

المؤلفون: Kalscheuer, VM, Hu, H, Haas, SA, Chelly, J, Van Esch, Hilde, Rayknaud, M, De Brouwer, A, Zemotjel, T, Weinert, S, Froyen, Guy, Frynts, SGM, Laumonnier, F, Love, MI, Richard, H, Emde, AK, Bienek, M, Jensen, C, Hambrock, M, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Shaw, M, Corbett, MA, Gardner, A, Willis-Owen, S, Tan, C, Friend, KL, Belet, S, Van Roozendaal, KEP, Jimenez-Pocquet, M, Moizard, MP, Ronce, N, Sun, R, O'Keeffef, S, Chenna, R, Mysickova, A, Göke, J, Hackett, A, Field, M, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bielenska, A, Ousager, LB, Wieacker, P, Criado, GR, Bondeson, ML, Dufke, A, Cohen, M, Van Maldergem, L, Cincent-delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, Jean-Pierre, Devriendt, Koenraad, Vingron, M, Wrogemann, K, Ullmann, R, Gecz, J, Tzschach, A, Van Bokhoven, H, Jentsch, J, Chen, W, Ropers, HH

Relation: Proceedings; 15th International Workshop on Fragile X and other Early-onset cognitive disorders location:Berlin, Germany date:September 4-7, 2011; https://lirias.kuleuven.be/handle/123456789/389827

الاتاحة: https://lirias.kuleuven.be/handle/123456789/389827

المؤلفون: Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D

المساهمون: Guilmatre, A, Legallic, S, Steel, G, Willis, A, Di Rosa, G, Goldenberg, A, Drouin-Garraud, V, Guet, A, Mignot, C, Des Portes, V, Valayannopoulos, V, Van Maldergem, L, Hoffman, Jd, Izzi, C, Espil-Taris, C, Orcesi, S, Bonafé, L, Le Galloudec, E, Maurey, H, Ioos, C, Afenjar, A, Blanchet, P, Echenne, B, Roubertie, A, Frebourg, T, Valle, D, Campion, D

مصطلحات موضوعية: PRODH, type I hyperprolinemia, 22q11, POX enzymatic activity, FAMILIAL HYPERPROLINEMIA, DELETION, GENES, SCHIZOPHRENIA, INVOLVEMENT

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/20524212; info:eu-repo/semantics/altIdentifier/wos/WOS:000280760300009; volume:31; issue:8; firstpage:961; lastpage:965; numberofpages:5; journal:HUMAN MUTATION; http://hdl.handle.net/11571/1359755; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77955085263

الاتاحة: http://hdl.handle.net/11571/1359755
https://doi.org/10.1002/humu.21296

المؤلفون: Delcourt, M., Riant, F., Mancini, J., Milh, M., Navarro, V., Roze, E., Humbertclaude, V., Korff, Christian, Des Portes, V., Szepetowski, P., Doummar, D., Echenne, B., Quintin, S., Leboucq, N., Singh Amrathlal, R., Rochette, J., Roubertie, A.

المصدر: ISSN: 0022-3050 ; Journal of neurology, neurosurgery and psychiatry, vol. 86, no. 7 (2015) p. 782-785.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618

Relation: https://archive-ouverte.unige.ch/unige:83765; unige:83765

الاتاحة: https://archive-ouverte.unige.ch/unige:83765