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1دورية أكاديمية
المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, de Villemeur, TB, Heron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, CR, Soerensen, KP, Kibaek, M, Kamsteeg, EJ, Koolen, DA, Gunning, B, Schelhaas, HJ, Kruer, MC, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, SC, Zeng, X, Bilguvar, K, Papavasileiou, A, Xin, QH, Zhu, CL, Boysen, K, Vairo, F, Lanpher, BC, Klee, EW, Tillema, JM, Payne, ET, Cousin, MA, Kruisselbrink, TM, Wick, MJ, Baker, J, Haan, E, Smith, N, Corbett, MA, MacLennan, AH, Gecz, J, Biskup, S, Goldmann, E, Rodan, LH, Kichula, E, Segal, E, Jackson, KE, Asamoah, A, Dimmock, D, McCarrier, J, Botto, LD, Filloux, F, Tvrdik, T, Cascino, GD, Klingerman, S, Neumann, C, Wang, R, Jacobsen, JC, Nolan, MA, Snell, RG, Lehnert, K, Sadleir, LG, Anderlid, BM, Kvarnung, M, Guerrini, R, Friez, MJ, Lyons, MJ, Leonhard, J, Kringlen, G, Casas, K, El Achkar, CM, Smith, LA, Rotenberg, A, Poduri, A, Sanchis-Juan, A, Carss, KJ, Rankin, J, Zeman, A, Raymond, FL, Blyth, M, Kerr, B, Ruiz, K, Urquhart, J, Hughes, I, Banka, S, Hedrich, UBS, Scheffer, IE, Helbig, I, Zamponi, GW, Lerche, H, Mefford, HC
المصدر: American journal of human genetics. 103(5):666-678
مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik
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2دورية أكاديمية
المؤلفون: Hagege, R., Krajden Haratz, K., Malinger, G., Ben‐sira, L., Leibovitz, Z., Heron, D., Burglen, L., Birnbaum, R., Valence, S., Keren, B., Blumkin, L., Jouannic, J.‐m., Lerman‐sagie, T., Garel, C.
المساهمون: CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP
المصدر: ISSN: 0960-7692.
مصطلحات موضوعية: basal ganglia brainstem gyration magnetic resonance prenatal diagnosis tubulinopathy ultrasound, basal ganglia, brainstem, gyration, magnetic resonance, prenatal diagnosis, tubulinopathy, ultrasound, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
العلاقة: hal-04351182; https://hal.science/hal-04351182Test; https://hal.science/hal-04351182/documentTest; https://hal.science/hal-04351182/file/Ultrasound%20in%20Obstet%20Gyne%20-%202022%20-%20Hagege%20-%20Spectrum%20of%20brain%20malformations%20in%20fetuses%20with%20mild%20tubulinopathy.pdfTest
الإتاحة: https://doi.org/10.1002/uog.26140Test
https://hal.science/hal-04351182Test
https://hal.science/hal-04351182/documentTest
https://hal.science/hal-04351182/file/Ultrasound%20in%20Obstet%20Gyne%20-%202022%20-%20Hagege%20-%20Spectrum%20of%20brain%20malformations%20in%20fetuses%20with%20mild%20tubulinopathy.pdfTest -
3دورية أكاديمية
المؤلفون: Gazzah, A., Lee, J.S., Wang, E., Ternès, N., Wang, H., Boitier, E., Lartigau, A., Chadjaa, M., Dib, C., Muzard, G., Valence, S., Remaury, A., Palu, C.C., Bauchet, A-L.
المصدر: Journal of Thoracic Oncology ; volume 18, issue 4, page S81 ; ISSN 1556-0864
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Oncology
الإتاحة: https://doi.org/10.1016/s1556-0864Test(23)00325-8
https://api.elsevier.com/content/article/PII:S1556086423003258?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1556086423003258?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, de Villemeur, TB, Heron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, CR, Soerensen, KP, Kibaek, M, Kamsteeg, EJ, Koolen, DA, Gunning, B, Schelhaas, HJ, Kruer, MC, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, SC, Zeng, X, Bilguvar, K, Papavasileiou, A, Xing, QH, Zhu, CL, Boysen, K, Vairo, F, Lanpher, BC, Klee, EW, Tillema, JM, Payne, ET, Cousin, MA, Kruisselbrink, TM, Wick, MJ, Baker, J, Haan, E, Smith, N, Sadeghpour, A, Davis, EE, Katsanis, N, Corbett, MA, MacLennan, AH, Gecz, J, Biskup, S, Goldmann, E, Rodan, LH, Kichula, E, Segal, E, Jackson, KE, Asamoah, A, Dimmock, D, McCarrier, J, Botto, LD, Filloux, F, Tvrdik, T, Cascino, GD, Klingerman, S, Neumann, C, Wang, R, Jacobsen, JC, Nolan, MA, Snell, RG, Lehnert, K, Sadleir, LG, Anderlid, BM, Kvarnung, M, Guerrini, R, Friez, MJ, Lyons, MJ, Leonhard, J, Kringlen, G, Casas, K, El Achkar, CM, Smith, LA, Rotenberg, A, Poduri, A, Sanchis-Juan, A, Carss, KJ, Rankin, J, Zeman, A, Raymond, FL, Blyth, M, Kerr, B, Ruiz, K, Urquhart, J, Hughes, I, Banka, S, Hedrich, UBS, Scheffer, IE, Helbig, I, Zamponi, GW, Lerche, H, Mefford, HC
المصدر: American journal of human genetics. 104(3):562-562
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Innocente, F., Mandracchia, D., Pektok, E., Nottelet, B., Tille, J.-C., De Valence, S., Walpoth, B.H.
المساهمون: Innocente, F., Mandracchia, D., Pektok, E., Nottelet, B., Tille, J.-C., De Valence, S., Walpoth, B.H., Yeditepe Üniversitesi
مصطلحات موضوعية: Coronary disease, Endothelium, Intimal hyperplasia, Paclitaxel elution, Vascular prostheses
العلاقة: Circulation; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; PubMed ID: 19752384; S37; S45; SUPPL. 1; 120; https://hdl.handle.net/20.500.11831/29Test
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6دورية أكاديمية
المؤلفون: Salpietro V., Dixon C. L., Guo H., Bello O. D., Vandrovcova J., Efthymiou S., Maroofian R., Heimer G., Burglen L., Valence S., Torti E., Hacke M., Rankin J., Tariq H., Colin E., Procaccio V., Striano P., Mankad K., Lieb A., Chen S., Pisani L., Bettencourt C., Mannikko R., Manole A., Brusco A., Grosso E., Ferrero G. B., Armstrong-Moron J., Gueden S., Bar-Yosef O., Tzadok M., Monaghan K. G., Santiago-Sim T., Person R. E., Cho M. T., Willaert R., Yoo Y., Chae J. -H., Quan Y., Wu H., Wang T., Bernier R. A., Xia K., Blesson A., Jain M., Motazacker M. M., Jaeger B., Schneider A. L., Boysen K., Muir A. M., Myers C. T., Gavrilova R. H., Gunderson L., Schultz-Rogers L., Klee E. W., Dyment D., Osmond M., Parellada M., Llorente C., Gonzalez-Penas J., Carracedo A., Van Haeringen A., Ruivenkamp C., Nava C., Heron D., Nardello R., Iacomino M., Minetti C., Skabar A., Fabretto A., Hanna M. G., Bugiardini E., Hostettler I., O'Callaghan B., Khan A., Cortese A., O'Connor E., Yau W. Y., Bourinaris T., Kaiyrzhanov R., Chelban V., Madej M., Diana M. C., Vari M. S., Pedemonte M., Bruno C., Balagura G., Scala M., Fiorillo C., Nobili L., Malintan N. T., Zanetti M. N., Krishnakumar S. S., Lignani G., Jepson J. E. C., Broda P., Baldassari S., Rossi P., Fruscione F., Madia F., Traverso M., De-Marco P., Perez-Duenas B., Munell F., Kriouile Y., El-Khorassani M., Karashova B., Avdjieva D., Kathom H., Tincheva R., Van-Maldergem L., Nachbauer W., Boesch S., Gagliano A., Amadori E., Goraya J. S., Sultan T., Kirmani S., Ibrahim S., Jan F., Mine J., Banu S., Veggiotti P., Zuccotti G. V., Ferrari M. D., Van Den Maagdenberg A. M. J., Verrotti A., Marseglia G. L., Savasta S., Soler M. A., Scuderi C., Borgione E., Chimenz R., Gitto E., Dipasquale V., Sallemi A., Fusco M., Cuppari C., Cutrupi M. C., Ruggieri M., Cama A., Capra V., Mencacci N. E., Boles R., Gupta N., Kabra M., Papacostas S., Zamba-Papanicolaou E., Dardiotis E., Maqbool S., Rana N., Atawneh O., Lim S. Y., Shaikh F., Koutsis G., Breza M., Coviello D. A., Dauvilliers Y. A., AlKhawaja I., AlKhawaja M., Al-Mutairi F., Stojkovic T., Ferrucci V., Zollo M., Alkuraya F. S., Kinali M., Sherifa H., Benrhouma H., Turki I. B. Y., Tazir M., Obeid M., Bakhtadze S., Saadi N. W., Zaki M. S., Triki C. C., Benfenati F., Gustincich S., Kara M., Belcastro V., Specchio N., Capovilla G., Karimiani E. G., Salih A. M., Okubadejo N. U., Ojo O. O., Oshinaike O. O., Oguntunde O., Wahab K., Bello A. H., Abubakar S., Obiabo Y., Nwazor E., Ekenze O., Williams U., Iyagba A., Taiwo L., Komolafe M., Senkevich K., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Rossi S., Silvestri G., Haridy N., Ramenghi L. A., Xiromerisiou G., David E., Aguennouz M., Fidani L., Spanaki C., Tucci A., Raspall-Chaure M., Chez M., Tsai A., Fassi E., Shinawi M., Constantino J. N., De Zorzi R., Fortuna S., Kok F., Keren B., Bonneau D., Choi M., Benzeev B., Zara F., Mefford H. C., Scheffer I. E., Clayton-Smith J., Macaya A., Rothman J. E., Eichler E. E., Kullmann D. M., Houlden H.
المساهمون: Salpietro, V., Dixon, C. L., Guo, H., Bello, O. D., Vandrovcova, J., Efthymiou, S., Maroofian, R., Heimer, G., Burglen, L., Valence, S., Torti, E., Hacke, M., Rankin, J., Tariq, H., Colin, E., Procaccio, V., Striano, P., Mankad, K., Lieb, A., Chen, S., Pisani, L., Bettencourt, C., Mannikko, R., Manole, A., Brusco, A., Grosso, E., Ferrero, G. B., Armstrong-Moron, J., Gueden, S., Bar-Yosef, O., Tzadok, M., Monaghan, K. G., Santiago-Sim, T., Person, R. E., Cho, M. T., Willaert, R., Yoo, Y., Chae, J. -H., Quan, Y., Wu, H., Wang, T., Bernier, R. A., Xia, K., Blesson, A., Jain, M., Motazacker, M. M., Jaeger, B., Schneider, A. L., Boysen, K., Muir, A. M., Myers, C. T., Gavrilova, R. H., Gunderson, L., Schultz-Rogers, L., Klee, E. W., Dyment, D., Osmond, M., Parellada, M., Llorente, C., Gonzalez-Penas, J., Carracedo, A., Van Haeringen, A., Ruivenkamp, C., Nava, C., Heron, D., Nardello, R., Iacomino, M., Minetti, C., Skabar, A., Fabretto, A., Hanna, M. G., Bugiardini, E., Hostettler, I., O'Callaghan, B., Khan, A., Cortese, A., O'Connor, E., Yau, W. Y., Bourinaris, T., Kaiyrzhanov, R., Chelban, V., Madej, M., Diana, M. C., Vari, M. S., Pedemonte, M., Bruno, C., Balagura, G., Scala, M., Fiorillo, C., Nobili, L., Malintan, N. T., Zanetti, M. N., Krishnakumar, S. S., Lignani, G., Jepson, J. E. C., Broda, P., Baldassari, S., Rossi, P., Fruscione, F., Madia, F.
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000475295700001; volume:10; issue:1; firstpage:3094; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11390/1243137Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068965744
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7دورية أكاديمية
المؤلفون: Gafner, M., Garel, C., Leibovitz, Z., Valence, S., Krajden Haratz, K., Oegema, R., Mancini, G. M.S., Heron, D., Bueltmann, E., Burglen, L., Rodriguez, D., Huisman, T. A.G.M., Lequin, M. H., Arad, A., Kidron, D., Muqary, M., Gindes, L., Lev, D., Boltshauser, E., Lerman-Sagie, T.
المصدر: Gafner , M , Garel , C , Leibovitz , Z , Valence , S , Krajden Haratz , K , Oegema , R , Mancini , G M S , Heron , D , Bueltmann , E , Burglen , L , Rodriguez , D , Huisman , T A G M , Lequin , M H , Arad , A , Kidron , D , Muqary , M , Gindes , L , Lev , D , Boltshauser , E & Lerman-Sagie , T 2023 , ' Medullary Tegmental Cap Dysplasia : Fetal and Postnatal Presentations of ....
الإتاحة: https://doi.org/10.3174/ajnr.a7805Test
https://pure.eur.nl/en/publications/728be0ac-808f-400b-9b7d-e0d11ec50157Test
http://www.scopus.com/inward/record.url?scp=85150001367&partnerID=8YFLogxKTest -
8دورية أكاديمية
المؤلفون: Gafner, M, Garel, C, Leibovitz, Z, Valence, S, Krajden Haratz, K, Oegema, R, Mancini, G M S, Heron, D, Bueltmann, E, Burglen, L, Rodriguez, D, Huisman, T A G M, Lequin, M H, Arad, A, Kidron, D, Muqary, M, Gindes, L, Lev, D, Boltshauser, E, Lerman-Sagie, T
المساهمون: Genetica Klinische Genetica, Brain, Child Health, MS Radiologie, Circulatory Health
مصطلحات موضوعية: Cerebellum/abnormalities, Child, Female, Fetus, Humans, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Multicenter Studies as Topic, Nervous System Malformations/diagnostic imaging, Pregnancy, Retrospective Studies, Clinical Neurology, Radiology Nuclear Medicine and imaging, Review, Journal Article
وصف الملف: application/pdf
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9دورية أكاديمية
المؤلفون: Rousseau, Marie-Christine, de Villemeur, Thierry Billette, Khaldi-Cherif, Sherezad, Brisse, Catherine, Felce, Agnès, Loundou, Anderson, Baumstarck, Karine, Auquier, Pascal, Leroy, Tanguy, Haddadou, S., Freihuber, C., Amalou, S., Bonheur, J., Valence, S., Nougues, M.C., Luciani, L., Nouet, J.P., Coiffier, C., Sellier, P., Julien, P., Grasset, J.C., Delvert, S., Gaulard, M., Belorgey, A., Si Abdelkader, H., Mathieu, S., Ardati, M., Kammache, I., Héron, B., Isapof, A., Afenjar, A., Maincent, K., Rodriguez, D., Doummar, D., Phan, M.H., Moutard, M.L., Willocq, D., Valkov, M., Teulade, J., Pietra, S., Grimont, E., Lenormand, S., Laracca, E., Aynie, V.
المساهمون: Fédération des hôpitaux de polyhandicap et multihandicap hôpital San Salvadour, Assistance publique-Hôpitaux de Paris, Centre d'études et de recherche sur les services de santé et la qualité de vie (CEReSS), Aix Marseille Université (AMU)
المصدر: ISSN: 1936-6574.
مصطلحات موضوعية: [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
العلاقة: hal-03270176; https://hal.science/hal-03270176Test; https://hal.science/hal-03270176/documentTest; https://hal.science/hal-03270176/file/S1936657419300342.pdfTest; PII: S1936-6574(19)30034-2
الإتاحة: https://doi.org/10.1016/j.dhjo.2019.01.013Test
https://hal.science/hal-03270176Test
https://hal.science/hal-03270176/documentTest
https://hal.science/hal-03270176/file/S1936657419300342.pdfTest -
10دورية أكاديمية
المؤلفون: Salpietro, V, Dixon, CL, Guo, H, Bello, OD, Vandrovcova, J, Efthymiou, S, Maroofian, R, Heimer, G, Burglen, L, Valence, S, Torti, E, Hacke, M, Rankin, J, Tariq, H, Colin, E, Procaccio, V, Striano, P, Mankad, K, Lieb, A, Chen, S, Pisani, L, Bettencourt, C, Mannikko, R, Manole, A, Brusco, A, Grosso, E, Ferrero, GB, Armstrong-Moron, J, Gueden, S, Bar-Yosef, O, Tzadok, M, Monaghan, KG, Santiago-Sim, T, Person, RE, Cho, MT, Willaert, R, Yoo, Y, Chae, J-H, Quan, Y, Wu, H, Wang, T, Bernier, RA, Xia, K, Blesson, A, Jain, M, Motazacker, MM, Jaeger, B, Schneider, AL, Boysen, K, Muir, AM, Myers, CT, Gavrilova, RH, Gunderson, L, Schultz-Rogers, L, Klee, EW, Dyment, D, Osmond, M, Parellada, M, Llorente, C, Gonzalez-Penas, J, Carracedo, A, Van Haeringen, A, Ruivenkamp, C, Nava, C, Heron, D, Nardello, R, Iacomino, M, Minetti, C, Skabar, A, Fabretto, A, Chez, M, Tsai, A, Fassi, E, Shinawi, M, Constantino, JN, De Zorzi, R, Fortuna, S, Kok, F, Keren, B, Bonneau, D, Choi, M, Benzeev, B, Zara, F, Mefford, HC, Scheffer, IE, Clayton-Smith, J, Macaya, A, Rothman, JE, Eichler, EE, Kullmann, DM, Houlden, H, Raspall-Chaure, M, Hanna, MG, Bugiardini, E, Hostettler, I, O'Callaghan, B, Khan, A, Cortese, A, O'Connor, E, Yau, WY, Bourinaris, T, Kaiyrzhanov, R, Chelban, V, Madej, M, Diana, MC, Vari, MS, Pedemonte, M, Bruno, C, Balagura, G, Scala, M, Fiorillo, C, Nobili, L, Malintan, NT, Zanetti, MN, Krishnakumar, SS, Lignani, G, Jepson, JEC, Broda, P, Baldassari, S, Rossi, P, Fruscione, F, Madia, F, Traverso, M, De-Marco, P, Perez-Duenas, B, Munell, F, Kriouile, Y, El-Khorassani, M, Karashova, B, Avdjieva, D, Kathom, H, Tincheva, R, Van-Maldergem, L, Nachbauer, W, Boesch, S, Gagliano, A, Amadori, E, Goraya, JS, Sultan, T, Kirmani, S, Ibrahim, S, Jan, F, Mine, J, Banu, S, Veggiotti, P, Zuccotti, G, Ferrari, MD, Van Den Maagdenberg, AMJ, Verrotti, A, Marseglia, GL, Savasta, S, Soler, MA, Scuderi, C, Borgione, E, Chimenz, R, Gitto, E, Dipasquale, V, Sallemi, A, Fusco, M, Cuppari, C, Cutrupi, MC, Ruggieri, M, Cama, A, Capra, V, Mencacci, NE, Boles, R, Gupta, N, Kabra, M, Papacostas, S, Zamba-Papanicolaou, E, Dardiotis, E, Maqbool, S, Rana, N, Atawneh, O, Lim, SY, Shaikh, F, Koutsis, G, Breza, M, Coviello, DA, Dauvilliers, YA, AlKhawaja, I, AlKhawaja, M, Al-Mutairi, F, Stojkovic, T, Ferrucci, V, Zollo, M, Alkuraya, FS, Kinali, M, Sherifa, H, Benrhouma, H, Turki, IBY, Tazir, M, Obeid, M, Bakhtadze, S, Saadi, NW, Zaki, MS, Triki, CC, Benfenati, F, Gustincich, S, Kara, M, Belcastro, V, Specchio, N, Capovilla, G, Karimiani, EG, Salih, AM, Okubadejo, NU, Ojo, OO, Oshinaike, OO, Oguntunde, O, Wahab, K, Bello, AH, Abubakar, S, Obiabo, Y, Nwazor, E, Ekenze, O, Williams, U, Iyagba, A, Taiwo, L, Komolafe, M, Senkevich, K, Shashkin, C, Zharkynbekova, N, Koneyev, K, Manizha, G, Isrofilov, M, Guliyeva, U, Salayev, K, Khachatryan, S, Rossi, S, Silvestri, G, Haridy, N, Ramenghi, LA, Xiromerisiou, G, David, E, Aguennouz, M, Fidani, L, Spanaki, C, Tucci, A
العلاقة: pii: 10.1038/s41467-019-10910-w; Salpietro, V., Dixon, C. L., Guo, H., Bello, O. D., Vandrovcova, J., Efthymiou, S., Maroofian, R., Heimer, G., Burglen, L., Valence, S., Torti, E., Hacke, M., Rankin, J., Tariq, H., Colin, E., Procaccio, V., Striano, P., Mankad, K., Lieb, A. ,. Tucci, A. (2019). AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-10910-wTest.; http://hdl.handle.net/11343/246204Test
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