Mowat-Wilson syndrome:growth charts

Autor: Ivanovski I., Djuric O., Broccoli S., Caraffi S. G., Accorsi P., Adam M. P., Avela K., Badura-Stronka M., Bayat A., Clayton-Smith J., Cocco I., Cordelli D. M., Cuturilo G., Di Pisa V., Dupont Garcia J., Gastaldi R., Giordano L., Guala A., Hoei-Hansen C., Inaba M., Iodice A., Nielsen J. E. K., Kuburovic V., Lazalde-Medina B., Malbora B., Mizuno S., Moldovan O., Moller R. S., Muschke P., Otelli V., Pantaleoni C., Piscopo C., Poch-Olive M. L., Prpic I., Marin Reina P., Raviglione F., Ricci E., Scarano E., Simonte G., Smigiel R., Tanteles G., Tarani L., Trimouille A., Valera E. T., Schrier Vergano S., Writzl K., Callewaert B., Savasta S., Street M. E., Iughetti L., Bernasconi S., Giorgi Rossi P., Garavelli L.

Publikováno v: Ivanovski, I, Djuric, O, Broccoli, S, Caraffi, S G, Accorsi, P, Adam, M P, Avela, K, Badura-Stronka, M, Bayat, A, Clayton-Smith, J, Cocco, I, Cordelli, D M, Cuturilo, G, Di Pisa, V, Dupont Garcia, J, Gastaldi, R, Giordano, L, Guala, A, Hoei-Hansen, C, Inaba, M, Iodice, A, Nielsen, J E K, Kuburovic, V, Lazalde-Medina, B, Malbora, B, Mizuno, S, Moldovan, O, Møller, R S, Muschke, P, Otelli, V, Pantaleoni, C, Piscopo, C, Poch-Olive, M L, Prpic, I, Marín Reina, P, Raviglione, F, Ricci, E, Scarano, E, Simonte, G, Smigiel, R, Tanteles, G, Tarani, L, Trimouille, A, Valera, E T, Schrier Vergano, S, Writzl, K, Callewaert, B, Savasta, S, Street, M E, Iughetti, L, Bernasconi, S, Giorgi Rossi, P & Garavelli, L 2020, ' Mowat-Wilson syndrome : growth charts ', Orphanet Journal of Rare Diseases, vol. 15, 151 . https://doi.org/10.1186/s13023-020-01418-4
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
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Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES
Volume 15
Issue 1
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Background: Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36eb6ffaf0310403b7e7418f5c8baafa
https://curis.ku.dk/portal/da/publications/mowatwilson-syndrome(958dfaa0-b4f4-4afb-bc1b-f587e943a8f5).html

Incidence of paediatric neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein antibody-associated disease in Denmark 2008-2018: a nationwide, population-based cohort study

Autor: Boesen, M. S., Jensen, P. E. H., Born, A. P., Magyari, M., Nilsson, A. C., Hoei-Hansen, C., Blinkenberg, M., Sellebjerg, F.

Publikováno v: Boesen, M S, Jensen, P E H, Born, A P, Magyari, M, Nilsson, A C, Hoei-Hansen, C, Blinkenberg, M & Sellebjerg, F 2019, ' Incidence of paediatric neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein antibody-associated disease in Denmark 2008-2018: a nationwide, population-based cohort study ', Multiple Sclerosis Journal, vol. 25, no. 2 Suppl. 1, pp. 163-164 . < https://doi.org/10.1177/1352458519868078 >

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3062::8022a8862929bb9154cfec8e224ca666
https://portal.findresearcher.sdu.dk/da/publications/af5acc0b-7151-43a3-99ab-f7a935ec6a65

Stem cell pluripotency factor NANOG is expressed in human fetal gonocytes, testicular carcinoma in situ and germ cell tumours.

Autor: Hoei-Hansen, C. E.¹ chh@dadlnet.dk, Almstrup, K.¹, Nielsen, J. E.¹, Brask Sonne, S.¹, Graem, N.^1,2, Skakkebaek, N. E.¹, Leffers, H.¹, Rajpert-De Meyts, E.¹

Publikováno v: Histopathology. Jul2005, Vol. 47 Issue 1, p48-56. 9p.

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