A low‐grade astrocytoma in a sixteen‐year‐old boy with a 7q11.22 deletion von Kampen, Francoise S., Doornbos, Marianne E., Rijn, Monique A., Bever, Yolande

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A low-grade astrocytoma in a sixteen-year-old boy with a 7q11.22 deletion von van Kampen, Francoise S, Doornbos, Marianne E, van Rijn, Monique A, den Bever, Yolande

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Undetectable anti‐Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis von Hannema, Sabine E., Wolffenbuttel, Katja P., Bever, Yolande, Brüggenwirth, Hennie T., Berg, Sjoerd A. A., Hersmus, Remko, Oosterhuis, J. Wolter, Looijenga, Leendert H. J.

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High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing von Douben, Hannie C. W., Nellist, Mark, Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, Hoogeveen‐Westerveld, Marianne, Louwen, Jesse, Veghel‐Plandsoen, Monique, Valk, Walter, Saris, Jasper J., Hendriks, Femke, Korpershoek, Esther, Hoefsloot, Lies H., Vliet, Margreethe, Bever, Yolande, Laar, Ingrid, Aten, Emmelien, Lachmeijer, Augusta M. A., Taal, Walter, Bersselaar, Lisa, Schuurmans, Juliette, Oostenbrink, Rianne, Minkelen, Rick, Ierland, Yvette, Ham, Tjakko J.

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Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report von Eleftheriadou, Maria, Medici‐ van den Herik, Evita, Stuurman, Kyra, Bever, Yolande, Hellebrekers, Debby M. E. I., Slegtenhorst, Marjon, Ruijter, George, Barakat, Tahsin Stefan

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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature von van der Laan, Liselot, Silva, Ananília, Kleinendorst, Lotte, Rooney, Kathleen, Haghshenas, Sadegheh, Lauffer, Peter, Alanay, Yasemin, Bhai, Pratibha, Brusco, Alfredo, de Munnik, Sonja, de Vries, Bert B.A., Vega, Angelica Delgado, Engelen, Marc, Herkert, Johanna C., Hochstenbach, Ron, Hopman, Saskia, Kant, Sarina G., Kira, Ryutaro, Kato, Mitsuhiro, Keren, Boris, Kroes, Hester Y., Levy, Michael A., Lock-Hock, Ngu, Maas, Saskia M., Mancini, Grazia M.S., Marcelis, Carlo, Matsumoto, Naomichi, Mizuguchi, Takeshi, Mussa, Alessandro, Mignot, Cyril, Närhi, Anu, Nordgren, Ann, Pfundt, Rolph, Polstra, Abeltje M., Trajkova, Slavica, van Bever, Yolande, José van den Boogaard, Marie, van der Smagt, Jasper J., Barakat, Tahsin Stefan, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

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Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) von Rooms, Liesbeth, Reyniers, Edwin, Luijk, Rob van, Scheers, Stefaan, Wauters, Jan, Ceulemans, Berten, Van Den Ende, Jenneke, Van Bever, Yolande, Kooy, R. Frank

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Legius syndrome in fourteen families von Denayer, Ellen, Chmara, Magdalena, Brems, Hilde, Kievit, Anneke Maat, van Bever, Yolande, Van den Ouweland, Ans MW, Van Minkelen, Rick, de Goede-Bolder, Arja, Oostenbrink, Rianne, Lakeman, Phillis, Beert, Eline, Ishizaki, Takuma, Mori, Tomoaki, Keymolen, Kathelijn, Van den Ende, Jenneke, Mangold, Elisabeth, Peltonen, Sirkku, Brice, Glen, Rankin, Julia, Van Spaendonck-Zwarts, Karin Y, Yoshimura, Akihiko, Legius, Eric

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Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted von van den Hondel, Desiree, Wijers, Charlotte H. W., van Bever, Yolande, de Klein, Annelies, Marcelis, Carlo L. M., de Blaauw, Ivo, Sloots, Cornelius E. J., IJsselstijn, Hanneke

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Waardenburg syndrome: Clinical differentiation between types I and II von Pardono, Eliete, van Bever, Yolande, van den Ende, Jenneke, Havrenne, Poti C., Iughetti, Paula, Maestrelli, Sylvia R.P., Costa F, Orozimbo, Richieri-Costa, Antonio, Frota-Pessoa, Oswaldo, Otto, Paulo A.

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Legius syndrome in fourteen families von Denayer, Ellen, Chmara, Magdalena, Brems, Hilde, Kievit, Anneke Maat, van Bever, Yolande, Van den Ouweland, Ans Mw, Van Minkelen, Rick, de Goede-Bolder, Arja, Oostenbrink, Rianne, Lakeman, Phillis, Beert, Eline, Ishizaki, Takuma, Mori, Tomoaki, Keymolen, Kathelijn, Van den Ende, Jenneke, Mangold, Elisabeth, Peltonen, Sirkku, Brice, Glen, Rankin, Julia, Van Spaendonck-Zwarts, Karin Y, Yoshimura, Akihiko, Legius, Eric

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Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature von van Bever, Yolande, van Hest, Liselotte, Wolfs, Roger, Tibboel, Dick, van den Hoonaard, Thelma L., Gischler, Saskia J.

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Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients von Hoornaert, Kristien P, Vereecke, Inge, Dewinter, Chantal, Rosenberg, Thomas, Beemer, Frits A, Leroy, Jules G, Bendix, Laila, Björck, Erik, Bonduelle, Maryse, Boute, Odile, Cormier-Daire, Valerie, De Die-Smulders, Christine, Dieux-Coeslier, Anne, Dollfus, Hélène, Elting, Mariet, Green, Andrew, Guerci, Veronica I, Hennekam, Raoul CM, Hilhorts-Hofstee, Yvonne, Holder, Muriel, Hoyng, Carel, Jones, Kristi J, Josifova, Dragana, Kaitila, Ilkka, Kjaergaard, Suzanne, Kroes, Yolande H, Lagerstedt, Kristina, Lees, Melissa, LeMerrer, Martine, Magnani, Cinzia, Marcelis, Carlo, Martorell, Loreto, Mathieu, Michèle, McEntagart, Meriel, Mendicino, Angela, Morton, Jenny, Orazio, Gabrielli, Paquis, Véronique, Reish, Orit, Simola, Kalle OJ, Smithson, Sarah F, Temple, Karen I, Van Aken, Elisabeth, Van Bever, Yolande, van den Ende, Jenneke, Van Hagen, Johanna M, Zelante, Leopoldo, Zordania, Riina, De Paepe, Anne, Leroy, Bart P, De Buyzere, Marc, Coucke, Paul J, Mortier, Geert R

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Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature von van Bever, Yolande, van Hest, Liselotte, Wolfs, Roger, Tibboel, Dick, van den Hoonaard, Thelma L., Gischler, Saskia J.

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Oculo-Auriculo-Vertebral complex and uncommon associated anomalies: Report on 8 unrelated Brazilian patients von van Bever, Yolande, van den Ende, Jenny J., Richieri-Costa, A.

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Marden-Walker-like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents von van den Ende, Jenny J., van Bever, Yolande, Rodini, E. S. O., Richieri-Costa, A.

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