DPF2-related Coffin-Siris syndrome type 7 in two generations von Kolokotronis, Konstantinos, Suter, Aude-Annick, Ivanovski, Ivan, Frey, Tanja, Bahr, Angela, Rauch, Anita, Steindl, Katharina

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Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract von Rechsteiner, Delia, Issler, Lydia, Koller, Samuel, Lang, Elena, Bähr, Luzy, Feil, Silke, Rüegger, Christoph M, Kottke, Raimund, Toelle, Sandra P, Zweifel, Noëmi, Steindl, Katharina, Joset, Pascal, Zweier, Markus, Suter, Aude-Annick, Gogoll, Laura, Haas, Cordula, Berger, Wolfgang, Gerth-Kahlert, Christina

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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals von Suter, Aude‐Annick, Santos‐Simarro, Fernando, Toerring, Pernille Mathiesen, Abad Perez, Angela, Ramos‐Mejia, Rosario, Heath, Karen E., Huckstadt, Victoria, Parrón‐Pajares, Manuel, Mensah, Martin Atta, Hülsemann, Wiebke, Holtgrewe, Manuel, Mundlos, Stefan, Kornak, Uwe, Bartsch, Oliver, Ehmke, Nadja

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Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene von Suter, Aude‐Annick, Itin, Peter, Heinimann, Karl, Ahmed, Munaza, Ashraf, Tazeen, Fryssira, Helen, Kini, Usha, Lapunzina, Pablo, Miny, Peter, Sommerlund, Mette, Suri, Mohnish, Vaeth, Signe, Vasudevan, Pradeep, Gallati, Sabina

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DPF2-related Coffin-Siris syndrome type 7 in two generations von Kolokotronis, Konstantinos, Suter, Aude-Annick, Ivanovski, Ivan, Frey, Tanja, Bahr, Angela, Rauch, Anita, Steindl, Katharina

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Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL 4 and USB 1 (C16orf57) gene von Suter, Aude‐Annick, Itin, Peter, Heinimann, Karl, Ahmed, Munaza, Ashraf, Tazeen, Fryssira, Helen, Kini, Usha, Lapunzina, Pablo, Miny, Peter, Sommerlund, Mette, Suri, Mohnish, Vaeth, Signe, Vasudevan, Pradeep, Gallati, Sabina

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Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract von Rechsteiner, Delia, Issler, Lydia S, Koller, Samuel, Lang, Elena, Bahr, Luzy, Feil, Silke, Rüegger, Christoph, Kottke, Raimund, Toelle, Sandra P, Zweifel, Noëmi, Steindl, Katharina, Joset, Pascal, Zweier, Markus, Suter, Aude-Annick, Gogoll, Laura, Haas, Cordula, Berger, Wolfgang, Gerth-Kahlert, Christina

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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals von Suter, Aude-Annick, Santos-Simarro, Fernando, Toerring, Pernille Mathiesen, Abad Perez, Angela, Ramos-Mejia, Rosario, Heath, Karen E, Huckstadt, Victoria, Parrón-Pajares, Manuel, Mensah, Martin Atta, Hülsemann, Wiebke, Holtgrewe, Manuel, Mundlos, Stefan, Kornak, Uwe, Bartsch, Oliver, Ehmke, Nadja

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Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene von Suter, Aude-Annick, Itin, Peter, Heinimann, Karl, Ahmed, Munaza, Ashraf, Tazeen, Fryssira, Helen, Kini, Usha, Lapunzina, Pablo, Miny, Peter, Sommerlund, Mette, Suri, Mohnish, Vaeth, Signe, Vasudevan, Pradeep, Gallati, Sabina

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OFROM: interview avec unifr22a31d von Delafontaine, François, Suter, Aude

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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals von Suter, Aude‐Annick, Santos‐Simarro, Fernando, Toerring, Pernille Mathiesen, Abad Perez, Angela, Ramos‐Mejia, Rosario, Heath, Karen E, Huckstadt, Victoria, Parrón‐Pajares, Manuel, Mensah, Martin Atta, Hülsemann, Wiebke, Holtgrewe, Manuel, Mundlos, Stefan, Kornak, Uwe, Bartsch, Oliver, Ehmke, Nadja

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