Zobrazeno 1 - 10
of 9 247
pro vyhledávání: '"Milunsky A"'
Autor:
Peay, Holly L
Publikováno v:
The Quarterly Review of Biology, 2002 Mar . 77(1), 60-61.
Externí odkaz:
https://www.jstor.org/stable/10.1086/343610
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:
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:
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:
Aubrey Milunsky, MD, DSc
New advances in genetics have dramatically expanded our ability to avoid, prevent, diagnose, and treat a wide range of disorders. Now, more than ever, families need to know about these new discoveries, especially as there are some 7,000 rare genetic
Autor:
Conway, Robert L., Pressman, Barry D., Dobyns, William B., Danielpour, Moise, Lee, John, Sanchez‐Lara, Pedro A., Butler, Merlin G., Zackai, Elaine, Campbell, Lindsey, Saitta, Sulagna C., Clericuzio, Carol L., Milunsky, Jeff M., Hoyme, H. Eugene, Shieh, Joseph, Moeschler, John B., Crandall, Barbara, Lauzon, Julie L., Viskochil, David H., Harding, Brian, Graham, John M.
Publikováno v:
American Journal of Medical Genetics. Part A; December 2007, Vol. 143 Issue: 24 p2981-3008, 28p
Autor:
Flynn, Maureen A., Milunsky, Jeff M.
Publikováno v:
American Journal of Medical Genetics. Part A; June 2006, Vol. 140 Issue: 12 p1326-1330, 5p
Autor:
Ishwar C. Verma
Publikováno v:
Journal of Fetal Medicine. :147-147
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fae471669dfdef1df41943e544d5ddb
https://doi.org/10.1007/s40556-016-0097-8
https://doi.org/10.1007/s40556-016-0097-8
Autor:
Green, Harold P.
Publikováno v:
Jurimetrics, 1987 Jan 01. 27(2), 219-221.
Externí odkaz:
https://www.jstor.org/stable/29762005
Autor:
Robinson, Arthur
Publikováno v:
American Scientist, 1981 May 01. 69(3), 336-337.
Externí odkaz:
https://www.jstor.org/stable/27850465