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1دورية أكاديمية
المؤلفون: Le, TL, Galmiche, L, Levy, J, Suwannarat, P, Hellebrekers, DM, Morarach, K, Boismoreau, F, Theunissen, TEJ, Lefebvre, M, Pelet, A, Martinovic, J, Gelot, A, Guimiot, F, Calleroz, A, Gitiaux, C, Hully, M, Goulet, O, Chardot, C, Drunat, S, Capri, Y, Bole-Feysot, C, Nitschke, P, Whalen, S, Mouthon, L, Babcock, HE, Hofstra, R, de Coo, IFM, Tabet, AC, Molina, TJ, Keren, B, Brooks, A, Smeets, HJM, Marklund, U, Gordon, CT, Lyonnet, S, Amiel, J, Bondurand, N
المصدر: The Journal of clinical investigation. 131(6)
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Rice, GI, Kitabayashi, N, Barth, M, Briggs, TA, Burton, ACE, Carpanelli, ML, Cerisola, AM, Colson, C, Dale, RC, Danti, FR, Darin, N, De Azua, B, De Giorgis, V, De Goede, CGL, Desguerre, I, De Laet, C, Eslahi, A, Fahey, MC, Fallon, P, Fay, A, Fazzi, E, Gorman, MP, Gowrinathan, NR, Hully, M, Kurian, MA, Leboucq, N, Lin, JPSM, Lines, MA, Mar, SS, Maroofian, R, Marti-Sanchez, L, McCullagh, G, Mojarrad, M, Narayanan, V, Orcesi, S, Ortigoza-Escobar, JD, Perez-Duenas, B, Petit, F, Ramsey, KM, Rasmussen, M, Rivier, F, Rodriguez-Pombo, P, Roubertie, A, Stodberg, TI, Toosi, MB, Toutain, A, Uettwiller, F, Ulrick, N, Vanderver, A, Waldman, A, Livingston, JH, Crow, YJ
المصدر: Neuropediatrics. 48(3):166-184
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Rousseau, M.-C., Hully, M., Milh, M., Juzeau, D., Pollez, B., Peudenier, S., Bahi Buisson, N., Gautheron, V., Chabrol, B., Billette de Villemeur, T.
المساهمون: Fédération des hôpitaux de polyhandicap et multihandicap hôpital San Salvadour, Assistance publique-Hôpitaux de Paris, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)
المصدر: ISSN: 0929-693X.
مصطلحات موضوعية: [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
العلاقة: hal-03270287; https://hal.science/hal-03270287Test; https://hal.science/hal-03270287/documentTest; https://hal.science/hal-03270287/file/S0929693X21000841.pdfTest; PII: S0929-693X(21)00084-1; PUBMEDCENTRAL: PMC8064873
الإتاحة: https://doi.org/10.1016/j.arcped.2021.04.004Test
https://hal.science/hal-03270287Test
https://hal.science/hal-03270287/documentTest
https://hal.science/hal-03270287/file/S0929693X21000841.pdfTest -
4دورية أكاديمية
المؤلفون: Le, T.L., Galmiche, L., Levy, J., Suwannarat, P., Hellebrekers, D.M., Morarach, K., Boismoreau, F., Theunissen, T.E.J., Lefebvre, M., Pelet, A., Martinovic, J., Gelot, A., Guimiot, F., Calleroz, A., Gitiaux, C., Hully, M., Goulet, O., Chardot, C., Drunat, S., Capri, Y., Bole-Feysot, C., Nitschke, P., Whalen, S., Mouthon, L., Babcock, H.E., Hofstra, R., de Coo, I.F.M., Tabet, A.C., Molina, T.J., Keren, B., Brooks, A., Smeets, H.J.M., Marklund, U., Gordon, C.T., Lyonnet, S., Amiel, J., Bondurand, N.
المصدر: Le , T L , Galmiche , L , Levy , J , Suwannarat , P , Hellebrekers , D M , Morarach , K , Boismoreau , F , Theunissen , T E J , Lefebvre , M , Pelet , A , Martinovic , J , Gelot , A , Guimiot , F , Calleroz , A , Gitiaux , C , Hully , M , Goulet , O , Chardot , C , Drunat , S , Capri , Y , Bole-Feysot , C , Nitschke , P , Whalen , S , Mouthon , L ....
مصطلحات موضوعية: CONGENITAL CONTRACTURAL SYNDROME, CHRONIC INTESTINAL PSEUDOOBSTRUCTION, SYNDROME TYPE-2 LCCS2, HIRSCHSPRUNG-DISEASE, SMOOTH-MUSCLE, PERIPHERAL NEUROPATHY, STRUCTURAL-ANALYSIS, RET PROTOONCOGENE, SOX10 MUTATIONS, TYROSINE KINASE
الإتاحة: https://doi.org/10.1172/jci146389Test
https://cris.maastrichtuniversity.nl/en/publications/51075cd7-7aa8-46db-af1f-08d7e7441e5eTest -
5دورية أكاديمية
المؤلفون: Lepelley, A, Della Mina, E, Van Nieuwenhove, E, Waumans, L, Fraitag, S, Rice, GI, Dhir, A, Frémond, ML, Rodero, MP, Seabra, L, Carter, E, Bodemer, C, Buhas, D, Callewaert, B, de Lonlay, P, De Somer, L, Dyment, DA, Faes, F, Grove, L, Holden, S, Hully, M, Kurian, MA, McMillan, HJ, Suetens, K, Tyynismaa, H, Chhun, S, Wai, T, Wouters, C, Bader-Meunier, B, Crow, YJ
المصدر: The Journal of experimental medicine , 218 (10) , Article e20201560. (2021)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10134550/1/jem_20201560.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10134550Test/
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6دورية أكاديمية
المؤلفون: Dangles, M.-T., Malan, V., Dumas, G., Romana, S., Raoul, O., Coste-Zeitoun, D., Soufflet, C., Vignolo-Diard, P., Bahi-Buisson, N., Barnérias, C., Chemaly, N., Desguerre, I., Gitiaux, C., Hully, M., Bourgeois, M., Guimier, A., Rio, M., Munnich, A., Nabbout, R., Kaminska, A., Eisermann, M.
المصدر: Clinical Neurophysiology ; volume 132, issue 5, page 1126-1137 ; ISSN 1388-2457
مصطلحات موضوعية: Physiology (medical), Neurology (clinical), Neurology, Sensory Systems
الإتاحة: https://doi.org/10.1016/j.clinph.2021.02.010Test
https://api.elsevier.com/content/article/PII:S1388245721000742?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1388245721000742?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Lebigot, E, Hully, M, Amazit, L, Gaignard, P, Michel, T, Rio, M, Lombès, Marc, Thérond, P, Boutron, A, Golinelli, Marie-Pierre
المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Physiologie et physiopathologie endocriniennes (PHYSENDO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Institut de Chimie des Substances Naturelles (ICSN), Institut de Chimie - CNRS Chimie (INC-CNRS)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)
المصدر: ISSN: 1567-7249 ; Mitochondrion ; https://hal.science/hal-02971951Test ; Mitochondrion, 2020, ⟨10.1016/j.mito.2020.02.008⟩.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
العلاقة: hal-02971951; https://hal.science/hal-02971951Test; https://hal.science/hal-02971951/documentTest; https://hal.science/hal-02971951/file/Lebigot%20el%20al%20Mitoch2020.pdfTest
الإتاحة: https://doi.org/10.1016/j.mito.2020.02.008Test
https://hal.science/hal-02971951Test
https://hal.science/hal-02971951/documentTest
https://hal.science/hal-02971951/file/Lebigot%20el%20al%20Mitoch2020.pdfTest -
8دورية أكاديمية
المؤلفون: Cif, L, Demailly, D, Lin, J-P, Barwick, KE, Sa, M, Abela, L, Malhotra, S, Chong, WK, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, MW, Applegate, CD, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, JA, Baple, EL, Bhatia, KP, Blanchet, C, Burglen, L, Cambonie, G, Seng, EC, Bastaraud, SC, Cyprien, F, Coubes, C, d'Hardemare, V, Deciphering Developmental Disorders Study, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, ME, Farrelly, E, Fitzpatrick, DR, Fearon, C, Fieg, EL, Fogel, BL, Forman, EB, Fox, RG, Genomics England Research Consortium, Gahl, WA, Galosi, S, Gonzalez, V, Graves, TD, Gregory, A, Hallett, M, Hasegawa, H, Hayflick, SJ, Hamosh, A, Hully, M, Jansen, S, Jeong, SY, Krier, JB, Krystal, S, Kumar, KR, Laurencin, C, Lee, H, Lesca, G, François, LL, Lynch, T, Mahant, N, Martinez-Agosto, JA, Milesi, C, Mills, KA, Mondain, M, Morales-Briceno, H, NIHR BioResource, Ostergaard, JR, Pal, S, Pallais, JC, Pavillard, F, Perrigault, P-F, Petersen, AK, Polo, G, Poulen, G, Rinne, T, Roujeau, T, Rogers, C, Roubertie, A, Sahagian, M, Schaefer, E, Selim, L, Selway, R, Sharma, N, Signer, R, Soldatos, AG, Stevenson, DA, Stewart, F, Tchan, M, Undiagnosed Diseases Network, Verma, IC, de Vries, BBA, Wilson, JL, Wong, DA, Zaitoun, R, Zhen, D, Znaczko, A, Dale, RC, de Gusmão, CM, Friedman, J, Fung, VSC, King, MD, Mohammad, SS, Rohena, L, Waugh, JL, Toro, C, Raymond, FL, Topf, M, Coubes, P, Gorman, KM, Kurian, MA
المصدر: Brain , 143 (11) pp. 3242-3261. (2020)
مصطلحات موضوعية: KMT2B, deep brain stimulation (DBS), dystonia, genetics, neurodevelopment
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10117508/8/Kurian_KMT2B%20Main_Submitted_R1_Changes%20included.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10117508Test/
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9دورية أكاديمية
المؤلفون: Golinelli, Marie-pierre, Lebigot, E, Hully, M, Amazit, L, Gaignard, P, Michel, T, Rio, M, Lombès, M, Thérond, P, Boutron, A, Golinelli-Cohen, M
المساهمون: Institut de Chimie des Substances Naturelles, Centre National de la Recherche Scientifique (CNRS)
المصدر: ISSN: 1567-7249 ; Mitochondrion ; https://hal.archives-ouvertes.fr/hal-02971951Test ; Mitochondrion, Elsevier, 2020, ⟨10.1016/j.mito.2020.02.008⟩.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
العلاقة: hal-02971951; https://hal.archives-ouvertes.fr/hal-02971951Test; https://hal.archives-ouvertes.fr/hal-02971951/documentTest; https://hal.archives-ouvertes.fr/hal-02971951/file/Lebigot%20el%20al%20Mitoch2020.pdfTest
الإتاحة: https://doi.org/10.1016/j.mito.2020.02.008Test
https://hal.archives-ouvertes.fr/hal-02971951Test
https://hal.archives-ouvertes.fr/hal-02971951/documentTest
https://hal.archives-ouvertes.fr/hal-02971951/file/Lebigot%20el%20al%20Mitoch2020.pdfTest -
10دورية أكاديمية
المؤلفون: Toulouse, J., Hully, M., Brossier, D., Viallard, M.-L., de Saint Blanquat, L., Renolleau, S., Kossorotoff, M., Desguerre, I.
المساهمون: Service de Soins Intensifs CHU Caen, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Université Paris Descartes - Paris 5 (UPD5), Recherches épidémiologiques en santé périnatale et santé des femmes, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: ISSN: 1090-3798 ; European Journal of Paediatric Neurology ; https://hal.science/hal-03486223Test ; European Journal of Paediatric Neurology, 2019, 23, pp.171 - 180. ⟨10.1016/j.ejpn.2018.09.002⟩.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
العلاقة: hal-03486223; https://hal.science/hal-03486223Test; https://hal.science/hal-03486223/documentTest; https://hal.science/hal-03486223/file/S1090379818300709.pdfTest; PII: S1090-3798(18)30070-9
الإتاحة: https://doi.org/10.1016/j.ejpn.2018.09.002Test
https://hal.science/hal-03486223Test
https://hal.science/hal-03486223/documentTest
https://hal.science/hal-03486223/file/S1090379818300709.pdfTest
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