1
2
Por Dworschak, Gabriel C., Zwink, Nadine, Schmiedeke, Eberhard, Mortazawi, Kiarasch, Märzheuser, Stefanie, Reinshagen, Konrad, Leonhardt, Johannes, Gómez, Barbara, Volk, Patrick, Rißmann, Anke, Jenetzky, Ekkehart, Reutter, Heiko
Publicado no Orphanet J Rare Dis (2017)
Obter o texto integralPublicado no Orphanet J Rare Dis (2017)
Obter o texto integral
Obter o texto integral
Artigo
3
Por Wellesley, Diana, Dolk, Helen, Boyd, Patricia A, Greenlees, Ruth, Haeusler, Martin, Nelen, Vera, Garne, Ester, Khoshnood, Babak, Doray, Berenice, Rissmann, Anke, Mullaney, Carmel, Calzolari, Elisa, Bakker, Marian, Salvador, Joaquin, Addor, Marie-Claude, Draper, Elizabeth, Rankin, Judith, Tucker, David
Publicado em 2012
Obter o texto integralPublicado em 2012
Obter o texto integral
Obter o texto integral
Artigo
4
Por Zwink, Nadine, Jenetzky, Ekkehart, Schmiedeke, Eberhard, Schmidt, Dominik, Märzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Weih, Sandra, Hosie, Stuart, Reifferscheid, Peter, Ameis, Helen, Kujath, Christina, Rißmann, Anke, Obermayr, Florian, Schwarzer, Nicole, Bartels, Enrika, Reutter, Heiko, Brenner, Hermann
Publicado em 2012
Obter o texto integralPublicado em 2012
Obter o texto integral
Obter o texto integral
Artigo
5
Por Barisic, Ingeborg, Boban, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Bergman, Jorieke EH, Braz, Paula, Draper, Elizabeth S, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Pierini, Anna, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Anke, Verellen-Dumoulin, Christine
Publicado no Eur J Hum Genet (2015)
Obter o texto integralPublicado no Eur J Hum Genet (2015)
Obter o texto integral
Obter o texto integral
Artigo
6
Por Barisic, Ingeborg, Odak, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Bianca, Sebastiano, Doray, Berenice, Khoshnood, Babak, Klungsoyr, Kari, McDonnell, Bob, Pierini, Anna, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Queisser-Luft, Annette, Scarano, Gioacchino, Tucker, David
Publicado no Eur J Hum Genet (2014)
Obter o texto integralPublicado no Eur J Hum Genet (2014)
Obter o texto integral
Obter o texto integral
Artigo
7
Por Bermejo-Sánchez, Eva, Cuevas, Lourdes, Amar, Emmanuelle, Bianca, Sebastiano, Bianchi, Fabrizio, Botto, Lorenzo D., Canfield, Mark A., Castilla, Eduardo E., Clementi, Maurizio, Cocchi, Guido, Landau, Danielle, Leoncini, Emanuele, Li, Zhu, Lowry, R. Brian, Mastroiacovo, Pierpaolo, Mutchinick, Osvaldo M., Rissmann, Anke, Ritvanen, Annukka, Scarano, Gioacchino, Siffel, Csaba, Szabova, Elena, Martínez-Frías, María-Luisa
Publicado no Am J Med Genet C Semin Med Genet (2011)
Obter o texto integralPublicado no Am J Med Genet C Semin Med Genet (2011)
Obter o texto integral
Obter o texto integral
Artigo
8
Por Orioli, Iêda M., Amar, Emmanuelle, Bakker, Marian K., Bermejo-Sánchez, Eva, Bianchi, Fabrizio, Canfield, Mark A., Clementi, Maurizio, Correa, Adolfo, Csáky-Szunyogh, Melinda, Feldkamp, Marcia L., Landau, Danielle, Leoncini, Emanuele, Li, Zhu, Lowry, R. Brian, Mastroiacovo, Pierpaolo, Morgan, Margery, Mutchinick, Osvaldo M., Rissmann, Anke, Ritvanen, Annukka, Scarano, Gioacchino, Szabova, Elena, Castilla, Eduardo E.
Publicado no Am J Med Genet C Semin Med Genet (2011)
Obter o texto integralPublicado no Am J Med Genet C Semin Med Genet (2011)
Obter o texto integral
Obter o texto integral
Artigo
9
Por Loane, Maria, Morris, Joan K, Addor, Marie-Claude, Arriola, Larraitz, Budd, Judith, Doray, Berenice, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsøyr Melve, Kari, Latos-Bielenska, Anna, McDonnell, Bob, Mullaney, Carmel, O'Mahony, Mary, Queißer-Wahrendorf, Annette, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Salvador, Joaquin, Tucker, David, Wellesley, Diana, Yevtushok, Lyubov, Dolk, Helen
Publicado em 2013
Obter o texto integralPublicado em 2013
Obter o texto integral
Obter o texto integral
Artigo
10
Por BERMEJO-SÁNCHEZ, EVA, CUEVAS, LOURDES, AMAR, EMMANUELLE, BAKKER, MARIAN K., BIANCA, SEBASTIANO, BIANCHI, FABRIZIO, CANFIELD, MARK A., CASTILLA, EDUARDO E., CLEMENTI, MAURIZIO, COCCHI, GUIDO, FELDKAMP, MARCIA L., LANDAU, DANIELLE, LEONCINI, EMANUELE, LI, ZHU, LOWRY, R. BRIAN, MASTROIACOVO, PIERPAOLO, MUTCHINICK, OSVALDO M., RISSMANN, ANKE, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SIFFEL, CSABA, SZABOVA, ELENA, MARTÍNEZ-FRÍAS, MARÍA-LUISA
Publicado no Am J Med Genet C Semin Med Genet (2011)
Obter o texto integralPublicado no Am J Med Genet C Semin Med Genet (2011)
Obter o texto integral
Obter o texto integral
Artigo
11
Por Barisic, Ingeborg, Boban, Ljubica, Greenlees, Ruth, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke EH, Braz, Paula, Budd, Judith LS, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, McDonnell, Bob, Nelen, Vera, Pierini, Anna, Queisser-Wahrendorf, Annette, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Tucker, David, Verellen-Dumoulin, Christine, Dolk, Helen
Publicado no Orphanet J Rare Dis (2014)
Obter o texto integralPublicado no Orphanet J Rare Dis (2014)
Obter o texto integral
Obter o texto integral
Artigo
12
Por SIFFEL, CSABA, CORREA, ADOLFO, AMAR, EMMANUELLE, BAKKER, MARIAN K., BERMEJO-SÁNCHEZ, EVA, BIANCA, SEBASTIANO, CASTILLA, EDUARDO E., CLEMENTI, MAURIZIO, COCCHI, GUIDO, CSÁKY-SZUNYOGH, MELINDA, FELDKAMP, MARCIA L., LANDAU, DANIELLE, LEONCINI, EMANUELE, LI, ZHU, LOWRY, R. BRIAN, MARENGO, LISA K., MASTROIACOVO, PIERPAOLO, MORGAN, MARGERY, MUTCHINICK, OSVALDO M., PIERINI, ANNA, RISSMANN, ANKE, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SZABOVA, ELENA, OLNEY, RICHARD S.
Publicado no Am J Med Genet C Semin Med Genet (2011)
Obter o texto integralPublicado no Am J Med Genet C Semin Med Genet (2011)
Obter o texto integral
Obter o texto integral
Artigo
13
Por Dolk, Helen, Wang, Hao, Loane, Maria, Morris, Joan, Garne, Ester, Addor, Marie-Claude, Arriola, Larraitz, Bakker, Marian, Barisic, Ingeborg, Doray, Berenice, Gatt, Miriam, Kallen, Karin, Khoshnood, Babak, Klungsoyr, Kari, Lahesmaa-Korpinen, Anna-Maria, Latos-Bielenska, Anna, Mejnartowicz, Jan P., Nelen, Vera, Neville, Amanda, O'Mahony, Mary, Pierini, Anna, Rißmann, Anke, Tucker, David, Wellesley, Diana, Wiesel, Awi, de Jong-van den Berg, Lolkje T.W.
Publicado no Neurology (2016)
Obter o texto integralPublicado no Neurology (2016)
Obter o texto integral
Obter o texto integral
Artigo
14
Por Nassar, Natasha, Leoncini, Emanuele, Amar, Emmanuelle, Arteaga-Vázquez, Jazmín, Bakker, Marian K., Bower, Carol, Canfield, Mark A., Castilla, Eduardo E., Cocchi, Guido, Correa, Adolfo, Csáky-Szunyogh, Melinda, Feldkamp, Marcia L., Khoshnood, Babak, Landau, Danielle, Lelong, Nathalie, López-Camelo, Jorge S., Lowry, R. Brian, McDonnell, Robert, Merlob, Paul, Métneki, Julia, Morgan, Margery, Mutchinick, Osvaldo M., Palmer, Miland N., Rissmann, Anke, Siffel, Csaba, Sìpek, Antonin, Szabova, Elena, Tucker, David, Mastroiacovo, Pierpaolo
Publicado no Birth Defects Res A Clin Mol Teratol (2012)
Obter o texto integralPublicado no Birth Defects Res A Clin Mol Teratol (2012)
Obter o texto integral
Obter o texto integral
Artigo
15
Por Bergman, Jorieke E. H., Loane, Maria, Vrijheid, Martine, Pierini, Anna, Nijman, Rien J. M., Addor, Marie-Claude, Barisic, Ingeborg, Béres, Judit, Braz, Paula, Budd, Judith, Delaney, Virginia, Gatt, Miriam, Khoshnood, Babak, Klungsøyr, Kari, Martos, Carmen, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., O’Mahony, Mary, Queisser-Luft, Annette, Randrianaivo, Hanitra, Rissmann, Anke, Rounding, Catherine, Tucker, David, Wellesley, Diana, Zymak-Zakutnia, Natalya, Bakker, Marian K., de Walle, Hermien E. K.
Publicado no World J Urol (2015)
Obter o texto integralPublicado no World J Urol (2015)
Obter o texto integral
Obter o texto integral
Artigo
16
Por Khoshnood, Babak, Loane, Maria, de Walle, Hermien, Arriola, Larraitz, Addor, Marie-Claude, Barisic, Ingeborg, Beres, Judit, Bianchi, Fabrizio, Dias, Carlos, Draper, Elizabeth, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Klungsoyr, Kari, Latos-Bielenska, Anna, Lynch, Catherine, McDonnell, Bob, Nelen, Vera, Neville, Amanda J, O’Mahony, Mary T, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Anke, Ritvanen, Annukka, Rounding, Catherine, Sipek, Antonin, Tucker, David, Verellen-Dumoulin, Christine, Wellesley, Diana, Dolk, Helen
Publicado no BMJ (2015)
Obter o texto integralPublicado no BMJ (2015)
Obter o texto integral
Obter o texto integral
Artigo
17
Por Morris, Joan K, Rankin, Judith, Garne, Ester, Loane, Maria, Greenlees, Ruth, Addor, Marie-Claude, Arriola, Larraitz, Barisic, Ingeborg, Bergman, Jorieke E H, Csaky-Szunyogh, Melinda, Dias, Carlos, Draper, Elizabeth S, Gatt, Miriam, Khoshnood, Babak, Klungsoyr, Kari, Kurinczuk, Jennifer J, Lynch, Catherine, McDonnell, Robert, Nelen, Vera, Neville, Amanda J, O’Mahony, Mary T, Pierini, Anna, Randrianaivo, Hanitra, Rissmann, Anke, Tucker, David, Verellen-Dumoulin, Christine, de Walle, Hermien E K, Wellesley, Diana, Wiesel, Awi, Dolk, Helen
Publicado no BMJ (2016)
Obter o texto integralPublicado no BMJ (2016)
Obter o texto integral
Obter o texto integral
Artigo
18
Por Boyle, Breidge, Addor, Marie-Claude, Arriola, Larraitz, Barisic, Ingeborg, Bianchi, Fabrizio, Csáky-Szunyogh, Melinda, de Walle, Hermien E K, Dias, Carlos Matias, Draper, Elizabeth, Gatt, Miriam, Garne, Ester, Haeusler, Martin, Källén, Karin, Latos-Bielenska, Anna, McDonnell, Bob, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J, O’Mahony, Mary, Queisser-Wahrendorf, Annette, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Ritvanen, Annukka, Rounding, Catherine, Tucker, David, Verellen-Dumoulin, Christine, Wellesley, Diana, Wreyford, Ben, Zymak-Zakutnia, Natalia, Dolk, Helen
Publicado no Arch Dis Child Fetal Neonatal Ed (2018)
Obter o texto integralPublicado no Arch Dis Child Fetal Neonatal Ed (2018)
Obter o texto integral
Obter o texto integral
Artigo