Zobrazeno 1 - 10
of 1 724
pro vyhledávání: '"Milunsky A"'
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:
van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F.J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W.Y., Chung, Brain H.Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M.S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N.M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A.L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C.E.H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P.A., Stumpel, Constance T.R.M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B.A., Clayton-Smith, Jill, Santen, Gijs W.E.
Publikováno v:
In Genetics in Medicine June 2019 21(6):1295-1307
Publikováno v:
Epidemiology, 2003 Mar 01. 14(2), 200-205.
Externí odkaz:
https://www.jstor.org/stable/3703456
Autor:
Milunsky, Jeff, Milunsky, Aubrey
Publikováno v:
In Genetics in Medicine Open 2023 1(1) Supplement
Autor:
Butcher, Darci T., Cytrynbaum, Cheryl, Turinsky, Andrei L., Siu, Michelle T., Inbar-Feigenberg, Michal, Mendoza-Londono, Roberto, Chitayat, David, Walker, Susan, Machado, Jerry, Caluseriu, Oana, Dupuis, Lucie, Grafodatskaya, Daria, Reardon, William, Gilbert-Dussardier, Brigitte, Verloes, Alain, Bilan, Frederic, Milunsky, Jeff M., Basran, Raveen, Papsin, Blake, Stockley, Tracy L., Scherer, Stephen W., Choufani, Sanaa, Brudno, Michael, Weksberg, Rosanna
Publikováno v:
In The American Journal of Human Genetics 4 May 2017 100(5):773-788
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d888071f801f6b2392fdf9e4d95bf81f
https://doi.org/10.1002/9781119676980.ch14
https://doi.org/10.1002/9781119676980.ch14