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Coffin-siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients

  • Gijs W.E. Santen
  • , Emmelien Aten
  • , Anneke T. Vulto-van Silfhout
  • , Caroline Pottinger
  • , Bregje W.M. van Bon
  • , Ivonne J.H.M. van Minderhout
  • , Ronelle Snowdowne
  • , Christian A.C. van der Lans
  • , Merel Boogaard
  • , Margot M.L. Linssen
  • , Linda Vijfhuizen
  • , Michiel J.R. van der Wielen
  • , M. J.Ellen Vollebregt
  • , Martijn H. Breuning
  • , Marjolein Kriek
  • , Arie van Haeringen
  • , Johan T. den Dunnen
  • , Alexander Hoischen
  • , Jill Clayton-Smith
  • , Bert B.A. de Vries
  • Raoul C.M. Hennekam, Martine J. van Belzen, Mariam Almureikhi, Anwar Baban, Mafalda Barbosa, Tawfeg Ben-Omran, Katherine Berry, Stefania Bigoni, Odile Boute, Louise Brueton, Ineke van der Burgt, Natalie Canham, Kate E. Chandler, Krystyna Chrzanowska, Amanda L. Collins, Teresa de Toni, John Dean, Nicolette S. den Hollander, Leigh Anne Flore, Alan Fryer, Alice Gardham, John M. Graham, Victoria Harrison, Denise Horn, Marjolijn C. Jongmans, Dragana Josifova, Sarina G. Kant, Seema Kapoor, Helen Kingston, Usha Kini, Tjitske Kleefstra, Krajewska-Walasek Malgorzata Krajewska-Walasek, Nancy Kramer, Saskia M. Maas, Patricia Maciel, M. S.Mancini Grazia, Isabelle Maystadt, Shane McKee, Jeff M. Milunsky, Sheela Nampoothiri, Ruth Newbury-Ecob, Sarah M. Nikkel, Michael J. Parker, Luis A. Pérez-Jurado, Stephen P. Robertson, Caroline Rooryck, Debbie Shears, Margherita Silengo, Ankur Singh, Robert Smigiel, Gabriela Soares, Miranda Splitt, Helen Stewart, Elizabeth Sweeney, May Tassabehji, I. Karen Temple, Beyhan Tuysuz, Albertien M. van Eerde, Catherine Vincent-Delorme, Louise C. Wilson, Gozde Yesil

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196 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology

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