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Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease Grenier, Celine; Lopes, Filipa M.; Cueto-Gonzalez, Anna M.; Rovira-Moreno, Eulalia; Gander, Romy; Jarvis, Benjamin W.; McCloskey, Karen D.; Gurney, Alison M.; Beaman, Glenda M.; Newman, William G.; Woolf, Adrian S.; Roberts, Neil A. Share Save
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples Abuli, Anna; Costa-Roger, Mar; Codina-Sola, Marta; Valenzuela, Irene; Leno-Colorado, Jordi; Rovira-Moreno, Eulalia; Cueto-Gonzalez, Anna; Fernandez-Alvarez, Paula; Garcia-Arumi, Elena; Cusco, Ivon; Tizzano, Eduardo F. Share Save
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history Codina-Sola, Marta; Trujillano, Laura; Abuli, Anna; Rovira-Moreno, Eulalia; Munoz-Cabello, Patricia; Campos, Berta; Fernandez-alvarez, Paula; Palau, Dolors; Carrasco, Estela; Valenzuela, Irene; Cueto-Gonzalez, Anna Maria.; Lasa-Aranzasti, Amaia; Limeres, Javier; Leno-Colorado, Jordi; Costa-Roger, Mar; Moles-Fernandez, Alejandro; Balmana, Judith; Diez, Orland; Cusco, Ivon; Garcia-Arumi, Elena; Tizzano, Eduardo Fidel Share Save
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder Cuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H.; van Gassen, Koen L.; van der Smagt, Jasper J.; Volker-Touw, Catharina M. L.; Holwerda, Sjoerd J. B.; Terhal, Paulien A.; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A.; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E. H.; Huijsdens-van Amsterdam, Karin; Verbeek, Nienke E.; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G.; Sinnema, Margje; De Vries, Bert B. A.; Gerkes, Erica H.; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D.; Xu, Zhou L.; Murrell, Jill R.; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulalia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stephane; Cogne, Benjamin Share Save
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