Zobrazeno 1 - 10
of 1 666
pro vyhledávání: '"Milunsky, A."'
Autor:
P.J. van der Sluijs, M. Gösgens, A.J.M. Dingemans, P. Striano, A. Riva, C. Mignot, A. Faudet, G. Vasileiou, M. Walther, S.A. Schrier Vergano, M. Alders, F.S. Alkuraya, I. Alorainy, H.S. Alsaif, B. Anderlid, I. Bache, I. van Beek, M. Blanluet, B.W. van Bon, T. Brunet, H. Brunner, M.L. Carriero, P. Charles, N. Chatron, E. Coccia, C. Dubourg, R.K. Earl, E.E. Eichler, L. Faivre, N. Foulds, C. Graziano, A.M. Guerrot, M.O. Hashem, S. Heide, D. Heron, S.E. Hickey, S.M.J. Hopman, A. Kattentidt-Mouravieva, J. Kerkhof, J.S. Klein Wassink-Ruiter, E.C. Kurtz-Nelson, K. Kušíková, M. Kvarnung, F. Lecoquierre, G.S. Leszinski, L. Loberti, P.L. Magoulas, F. Mari, I. Maystadt, G. Merla, J.M. Milunsky, S. Moortgat, G. Nicolas, M.O.’ Leary, S. Odent, J.R. Ozmore, K. Parbhoo, R. Pfundt, M. Piccione, A.M. Pinto, B. Popp, A. Putoux, H.L. Rehm, A. Reis, A. Renieri, J.A. Rosenfeld, M. Rossi, E. Salzano, P. Saugier-Veber, M. Seri, G. Severi, F.M. Sonmez, G. Strobl-Wildemann, K.E. Stuurman, E. Uctepe, H. Van Esch, G. Vitetta, B.B.A. de Vries, D. Wahl, T. Wang, P. Zacher, K.R. Heitink, F.G. Ropers, D. Steenbeek, T. Rybak, G.W.E. Santen
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101873- (2024)
Purpose: ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the disease’s natural history and
Externí odkaz:
https://doaj.org/article/a69068b027154c3c8fb3c081422af42c
Autor:
van der Sluijs, P.J., Gösgens, M., Dingemans, A.J.M., Striano, P., Riva, A., Mignot, C., Faudet, A., Vasileiou, G., Walther, M., Schrier Vergano, S.A., Alders, M., Alkuraya, F.S., Alorainy, I., Alsaif, H.S., Anderlid, B., Bache, I., van Beek, I., Blanluet, M., van Bon, B.W., Brunet, T., Brunner, H., Carriero, M.L., Charles, P., Chatron, N., Coccia, E., Dubourg, C., Earl, R.K., Eichler, E.E., Faivre, L., Foulds, N., Graziano, C., Guerrot, A.M., Hashem, M.O., Heide, S., Heron, D., Hickey, S.E., Hopman, S.M.J., Kattentidt-Mouravieva, A., Kerkhof, J., Klein Wassink-Ruiter, J.S., Kurtz-Nelson, E.C., Kušíková, K., Kvarnung, M., Lecoquierre, F., Leszinski, G.S., Loberti, L., Magoulas, P.L., Mari, F., Maystadt, I., Merla, G., Milunsky, J.M., Moortgat, S., Nicolas, G., Leary, M.O.’, Odent, S., Ozmore, J.R., Parbhoo, K., Pfundt, R., Piccione, M., Pinto, A.M., Popp, B., Putoux, A., Rehm, H.L., Reis, A., Renieri, A., Rosenfeld, J.A., Rossi, M., Salzano, E., Saugier-Veber, P., Seri, M., Severi, G., Sonmez, F.M., Strobl-Wildemann, G., Stuurman, K.E., Uctepe, E., Van Esch, H., Vitetta, G., de Vries, B.B.A., Wahl, D., Wang, T., Zacher, P., Heitink, K.R., Ropers, F.G., Steenbeek, D., Rybak, T., Santen, G.W.E.
Publikováno v:
In Genetics in Medicine Open 2024 2
Autor:
Jeff Milunsky, Aubrey Milunsky
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100280- (2023)
Externí odkaz:
https://doaj.org/article/09d36c18d4eb4508a43ee608f7dff6d3
Autor:
Milunsky, Jeff, Milunsky, Aubrey
Publikováno v:
In Genetics in Medicine Open 2023 1(1) Supplement
Publikováno v:
Epidemiology, 2003 Mar 01. 14(2), 200-205.
Externí odkaz:
https://www.jstor.org/stable/3703456
Publikováno v:
Epidemiology, 2000 Nov 01. 11(6), 689-694.
Externí odkaz:
https://www.jstor.org/stable/3703824
Autor:
Walters-Sen, Lauren C., Windemuth, Kathy, Angione, Katie, Nandhlal, Jenisha, Milunsky, Jeff M.
Publikováno v:
In European Journal of Medical Genetics May 2015 58(5):305-309
Autor:
Jeff M. Milunsky
Publikováno v:
Genetic Disorders and the Fetus. :572-610
Autor:
Aubrey Milunsky
Publikováno v:
Genetic Disorders and the Fetus ISBN: 9781468434408
Neural tube defects (NTDs) are the commonest major congenital malformations in the north and west of the United Kingdom, involving particularly Northern Ireland, Wales, and Scotland. The estimated incidence in these areas varies from 6 to 8 per 1000