Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Kline, Antonie D., Moss, Joanna F., Selicorni, Angelo, Bisgaard, Anne-Marie, Deardorff, Matthew A., Gillett, Peter M., Ishman, Stacey L., Kerr, Lynne M., Levin, Alex V., Mulder, Paul A., Ramos, Feliciano J., Wierzba, Jolanta, Ajmone, Paola Francesca, Axtell, David, Blagowidow, Natalie, Cereda, Anna, Costantino, Antonella, Cormier-Daire, Valerie, FitzPatrick, David, Grados, Marco, Groves, Laura, Guthrie, Whitney, Huisman, Sylvia, Kaiser, Frank J., Koekkoek, Gerritjan, Levis, Mary, Mariani, Milena, McCleery, Joseph P., Menke, Leonie A., Metrena, Amy, O’Connor, Julia, Oliver, Chris, Pie, Juan, Piening, Sigrid, Potter, Carol J., Quaglio, Ana L., Redeker, Egbert, Richman, David, Rigamonti, Claudia, Shi, Angell, Tümer, Zeynep, Van Balkom, Ingrid D. C., Hennekam, Raoul C.
Published in Nature reviews. Genetics (01.10.2018)
Published in Nature reviews. Genetics (01.10.2018)
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Phenotypes and genotypes in individuals with SMC1A variants
Huisman, Sylvia, Mulder, Paul A., Redeker, Egbert, Bader, Ingrid, Bisgaard, Anne‐Marie, Brooks, Alice, Cereda, Anna, Cinca, Constanza, Clark, Dinah, Cormier‐Daire, Valerie, Deardorff, Matthew A., Diderich, Karin, Elting, Mariet, van Essen, Anthonie, FitzPatrick, David, Gervasini, Cristina, Gillessen‐Kaesbach, Gabriele, Girisha, Katta M., Hilhorst‐Hofstee, Yvonne, Hopman, Saskia, Horn, Denise, Isrie, Mala, Jansen, Sandra, Jespersgaard, Cathrine, Kaiser, Frank J., Kaur, Maninder, Kleefstra, Tjitske, Krantz, Ian D., Lakeman, Phillis, Landlust, Annemiek, Lessel, Davor, Michot, Caroline, Moss, Jo, Noon, Sarah E., Oliver, Chris, Parenti, Ilaria, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Russo, Silvia, Selicorni, Angelo, Tümer, Zeynep, Vorstenbosch, Rieneke, Wenger, Tara L., van Balkom, Ingrid, Piening, Sigrid, Wierzba, Jolanta, Hennekam, Raoul C.
Published in American journal of medical genetics. Part A (01.08.2017)
Published in American journal of medical genetics. Part A (01.08.2017)
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Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
Krab, Lianne C., Marcos-Alcalde, Iñigo, Assaf, Melissa, Balasubramanian, Meena, Andersen, Janne Bayer, Bisgaard, Anne-Marie, Fitzpatrick, David R., Gudmundsson, Sanna, Huisman, Sylvia A., Kalayci, Tugba, Maas, Saskia M., Martinez, Francisco, McKee, Shane, Menke, Leonie A., Mulder, Paul A., Murch, Oliver D., Parker, Michael, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Rosenfeld Mokry, Jill A., Scarano, Emanuela, Shinawi, Marwan, Gómez-Puertas, Paulino, Tümer, Zeynep, Hennekam, Raoul C.
Published in Human genetics (01.05.2020)
Published in Human genetics (01.05.2020)
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Behaviour in Cornelia de Lange syndrome: a systematic review
Mulder, Paul A, Huisman, Sylvia A, Hennekam, Raoul C, Oliver, Chris, Balkom, Ingrid D C, Piening, Sigrid
Published in Developmental medicine and child neurology (01.04.2017)
Published in Developmental medicine and child neurology (01.04.2017)
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Further delineation of Malan syndrome
Priolo, Manuela, Schanze, Denny, Tatton‐Brown, Katrin, Mulder, Paul A., Tenorio, Jair, Kooblall, Kreepa, Acero, Inés Hernández, Alkuraya, Fowzan S., Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K., Cole, Trevor, Coubes, Christine, Dapia, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H., Fahrner, Jill A., Foster, Alison, González, Noelia García, Huber, Ilka, Iascone, Maria, Kaiser, Ann‐Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M., Mammì, Corrado, Mathijssen, Inge B., McKee, Shane, Menke, Leonie A., Mirzaa, Ghayda M., Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E., Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S., Price, Sue, Salter, Claire, Santos‐Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw‐Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Haeringen, Arie, Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.
Published in Human mutation (01.09.2018)
Published in Human mutation (01.09.2018)
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