The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy by Sanne K. Verbakel, Zeinab Fadaie, B. Jeroen Klevering, Maria M. van Genderen, Ilse Feenstra, Frans P. M. Cremers, Carel B. Hoyng, Susanne Roosing

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TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction by Daniela Ragancokova, Elena Rocca, Anne M.M. Oonk, Herbert Schulz, Elvira Rohde, Jan Bednarsch, Ilse Feenstra, Ronald J.E. Pennings, Hagen Wende, Alistair N. Garratt

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Women’s Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy by Angelique J. A. Kooper, Dominique F. C. M. Smeets, Ilse Feenstra, Lia D. E. Wijnberger, Robbert J. P. Rijnders, Rik W. P. Quartero, Peter F. Boekkooi, John M. G. van Vugt, Arie P. T. Smits

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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease by Abderrahim Marouane, Abderrahim Marouane, Kornelia Neveling, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers, Lisenka E. L. M. Vissers

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