المؤلفون: Solomon, B.D., Lacbawan, F., Mercier, S., Clegg, N.J., Delgado, M.R., Rosenbaum, K., Dubourg, C., David, V., Olney, A.H., Wehner, L.E., Hehr, U., Bale, S., Paulussen, A., Smeets, H.J., Hardisty, E., Tylki-Szymanska, A., Pronicka, E., Clemens, M., McPherson, E., Hennekam, R.C.M., Hahn, J., Stashinko, E., Levey, E., Wieczorek, D, Roeder, E, Schell-Apacik, C.C., Booth, C.W., Thomas, R.L., Kenwrick, S., Cummings, D.A.T., Bous, S.M., Keaton, A., Balog, J.Z., Hadley, D., Zhou, N., Long, R., Vélez, J.I., Pineda-Alvarez, D.E., Odent, S., Roessler, E., Muenke, M.

المصدر: Solomon , B D , Lacbawan , F , Mercier , S , Clegg , N J , Delgado , M R , Rosenbaum , K , Dubourg , C , David , V , Olney , A H , Wehner , L E , Hehr , U , Bale , S , Paulussen , A , Smeets , H J , Hardisty , E , Tylki-Szymanska , A , Pronicka , E , Clemens , M , McPherson , E , Hennekam , R C M , Hahn , J , Stashinko , E , Levey , E ....

وصف الملف: application/pdf

Relation: https://dare.uva.nl/personal/pure/en/publications/mutations-in-zic2-in-human-holoprosencephaly-description-of-a-novel-zic2-specific-phenotype-and-comprehensive-analysis-of-157-individuals(18c40781-fece-4942-b9b5-c63424c52650).html

الاتاحة: https://dare.uva.nl/personal/pure/en/publications/mutations-in-zic2-in-human-holoprosencephaly-description-of-a-novel-zic2-specific-phenotype-and-comprehensive-analysis-of-157-individuals(18c40781-fece-4942-b9b5-c63424c52650).html
https://doi.org/10.1136/jmg.2009.073049
https://pure.uva.nl/ws/files/1458504/98539_341367.pdf

المؤلفون: Lacbawan, F., Solomon, B.D., Roessler, E., El-Jaick, K., Domené, S., Vélez, J.I., Zhou, N., Hadley, D., Balog, J.Z., Long, R., Fryer, A., Smith, W., Omar, S., McLean, S.D., Clarkson, K., Lichty, A., Clegg, N.J., Delgado, M.R., Levey, E., Stashinko, E., Potocki, L., VanAllen, M.I., Clayton-Smith, J., Donnai, D., Bianchi, D.W., Juliusson, P.B., Njølstad, P.R., Brunner, H.G., Carey, J.C., Hehr, U., Müsebeck, J., Wieacker, P.F., Postra, A., Hennekam, R.C.M., van den Boogaard, M.J.H., van Haeringen, A., Paulussen, A., Herbergs, J., Schrander-Stumpel, C.T.R.M., Janecke, A.R., Chitayat, D., Hahn, J., McDonald-McGinn, D.M., Zackai, E.H., Dobyns, W.B., Muenke, M.

المصدر: Lacbawan , F , Solomon , B D , Roessler , E , El-Jaick , K , Domené , S , Vélez , J I , Zhou , N , Hadley , D , Balog , J Z , Long , R , Fryer , A , Smith , W , Omar , S , McLean , S D , Clarkson , K , Lichty , A , Clegg , N J , Delgado , M R , Levey , E , Stashinko , E , Potocki , L , VanAllen , M I , Clayton-Smith , J , ....

وصف الملف: application/pdf

Relation: https://dare.uva.nl/personal/pure/en/publications/clinical-spectrum-of-six3associated-mutations-in-holoprosencephaly-correlation-between-genotype-phenotype-and-function(969ea6aa-5e7c-493d-b2ed-79de3c1b65be).html

الاتاحة: https://dare.uva.nl/personal/pure/en/publications/clinical-spectrum-of-six3associated-mutations-in-holoprosencephaly-correlation-between-genotype-phenotype-and-function(969ea6aa-5e7c-493d-b2ed-79de3c1b65be).html
https://doi.org/10.1136/jmg.2008.063818
https://pure.uva.nl/ws/files/796820/86014_321192.pdf

المؤلفون: Misra, D. P., Strobino, D. M., Stashinko, E. E., Nagey, D. A., Nanda, J.

المصدر: American Journal of Epidemiology ; volume 147, issue 7, page 628-635 ; ISSN 0002-9262 1476-6256

الاتاحة: http://dx.doi.org/10.1093/oxfordjournals.aje.a009503
http://academic.oup.com/aje/article-pdf/147/7/628/418166/147-7-628.pdf

المؤلفون: Lacbawan, F., Solomon, B. D., Roessler, E., El-Jaick, K., Domene, Sabina, Vélez, J. I., Zhou, N., Hadley, D., Balog, J. Z., Long, R., Fryer, A., Smith, W., Omar, S., McLean, S. D., Clarkson, K., Lichty, A., Clegg, N. J., Delgado, M. R., Levey, E., Stashinko, E., Potocki, L., VanAllen, M. I., Clayton Smith, J., Donnai, D., Bianchi, D. W., Juliusson, P. B., Njølstad, P. R., Brunner, H. G., Carey, J. C., Hehr, U., Müsebeck, J., Wieacker, P. F., Postra, A., Hennekam, R. C. M., Van Den Boogaard, M. J. H., Van Haeringen, A., Paulussen, A., Herbergs, J., Schrander Stumpel, C. T. R. M., Janecke, A. R., Chitayat, D., Hahn, J., McDonald McGinn, D. M., Zackai, E.H., Dobyns, W. B., Muenke, Maximilian

مصطلحات موضوعية: Holoprosencephaly, Hpe, Six3, https://purl.org/becyt/ford/3.3, https://purl.org/becyt/ford/3

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/url/https://jmg.bmj.com/content/46/6/389; http://hdl.handle.net/11336/80616; Lacbawan, F.; Solomon, B. D.; Roessler, E.; El-Jaick, K.; Domene, Sabina; et al.; Clinical spectrum of SIX3-associated mutations in holoprosencephaly: Correlation between genotype, phenotype and function; B M J Publishing Group; Journal Of Medical Genetics; 46; 6; 6-2009; 389-398; CONICET Digital; CONICET

الاتاحة: http://hdl.handle.net/11336/80616

المؤلفون: Plawner, L L, Delgado, M R, Miller, V S, Levey, E B, Kinsman, S L, Barkovich, A J, Simon, E M, Clegg, N J, Sweet, V T, Stashinko, E E, Hahn, J S

المصدر: Neurology; 2002 Oct 8, Vol. 59 Issue 7, p1058-1066, 9p

المؤلفون: Nagae, L. M., Hoon Jr., A. H., Stashinko, E., Lin, D., Zhang, W., Levey, E., Leite, C. C., Lucato, L. T., Wakama, S., Jiang, H.

مصطلحات موضوعية: TENSORES, CRIANÇAS, FERIMENTOS E LESÕES

الاتاحة: https://doi.org/10.3174/ajnr.a0534