Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Pai, G. S."'
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1980 May 01. 77(5), 2810-2813.
Externí odkaz:
https://www.jstor.org/stable/8784
Autor:
Neuray, C., Maroofian, R., Scala, M., Sultan, T., Pai, G. S., Mojarrad, M., Khashab, H. E., Deholl, L., Yue, W., Alsaif, H. S., Zanetti, M. N., Bello, O., Person, R., Eslahi, A., Khazaei, Z., Feizabadi, M. H., Efthymiou, S., El-Bassyouni, H. T., Soliman, D. R., Tekes, S., Ozer, L., Baltaci, V., Khan, S., Beetz, C., Amr, K. S., Salpietro, V., Jamshidi, Y., Alkuraya, F. S., Houlden, H., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Synaps, Group, Di Rosa, G., Aguennouz, M., Goraya, J. S., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A. M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B. M., Boles, R., Papacostas, S., Vikelis, M., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Striano, P., Al-Khawaja, I., Al-Mutairi, F., Sherifa, H.
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Brain
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (8), pp.2388-2397. ⟨10.1093/brain/awaa178⟩
Publons
Universidad de Barcelona
Brain
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (8), pp.2388-2397. ⟨10.1093/brain/awaa178⟩
Publons
Mice lacking GAD1 show neonatal mortality, but the human phenotype associated with GAD1 disruption is poorly characterized. Neuray et al. describe six patients with biallelic GAD1 mutations, presenting with early-infantile onset epilepsy, neurodevelo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55108cc53157474a74f1616404044b9d
http://hdl.handle.net/11567/1022383
http://hdl.handle.net/11567/1022383
Akademický článek
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Publikováno v:
Journal of Cutaneous & Aesthetic Surgery; Sep2010, Vol. 3 Issue 3, p170-173, 4p, 7 Color Photographs
Publikováno v:
Indian Journal of Pediatrics; Dec2000, Vol. 67 Issue 12, p907-913, 7p
Publikováno v:
Indian Journal of Pediatrics; Nov2000, Vol. 67 Issue 11, p819-823, 5p
Publikováno v:
Pediatric Dermatology; Mar1993, Vol. 10 Issue 1, p49-53, 5p
Publikováno v:
Clinical Genetics; Dec1980, Vol. 18 Issue 6, p436-444, 9p
Autor:
Pai, G S, Hane, B, Joseph, M, Nelson, R, Hammond, L S, Arena, J F, Lubs, H A, Stevenson, R E, Schwartz, C E
Publikováno v:
Journal of Medical Genetics; Jul1997, Vol. 34 Issue 7, p529-534, 6p, 1 Black and White Photograph, 1 Diagram, 1 Chart
Publikováno v:
Journal of Medical Genetics; Nov1996, Vol. 33 Issue 11, p906-911, 6p, 2 Black and White Photographs, 1 Diagram, 1 Chart