Not logged in Share Save
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies Lubin, Emily E.; Gonzalez, Elizabeth M.; Sangree, Annabel K.; Durham, Emily L.; Klinkhammer, Hannah; Li, Jing-Mei; Smith, Sarina M.; Layo-Carris, Dana E.; Clark, Kelly J.; Melendez-Perez, Ashley J.; Wang, Xiao Min; Angireddy, Rajesh; Weiss, Erin E.; Barakat, Tahsin Stefan; Mercier, Sandra; Cogne, Benjamin; Koene, Saskia; Hilhorst-Hofstee, Yvonne; Rydzanicz, Malgorzata; Ploski, Rafal; Cano, Maria de los Gomez; Palomares-Bralo, Maria; Arevalo, Tania Barragan; Tan, Tiong Yang; Gallacher, Lyndon; MacFarland, Suzanne P.; Ahrens-Nicklas, Rebecca C.; Nomakuchi, Tomoki T.; Bhoj, Elizabeth J. K. Share Save
The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency Hinic, Snezana; van der Post, Rachel S.; Vreede, Lilian; Schuurs-Hoeijmakers, Janneke; Koene, Saskia; Jansen, Erik A. M.; Bervoets-Metge, Franziska; Mensenkamp, Arjen R.; Hoogerbrugge, Nicoline; Ligtenberg, Marjolijn J. L.; de Voer, Richarda M. Share Save
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2 Hinic, Snezana; Cybulski, Cezary; Van der Post, Rachel S.; Vos, Janet R.; Schuurs-Hoeijmakers, Janneke; Brugnoletti, Fulvia; Koene, Saskia; Vreede, Lilian; van Zelst-Stams, Wendy A. G.; Kets, C. Marleen; Haadsma, Maaike; Spruijt, Liesbeth; Wevers, Marijke R.; Evans, D. Gareth; Wimmer, Katharina; Schnaiter, Simon; Volk, Alexander E.; Mollring, Anna; de Putter, Robin; Soikkonen, Leila; Kahre, Tiina; Tooming, Mikk; de Jong, Mirjam M.; Vaz, Fatima; Mensenkamp, Arjen R.; Genuardi, Maurizio; Lubinski, Jan; Ligtenberg, Marjolijn; Hoogerbrugge, Nicoline; de Voer, Richarda M. Share Save
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals Koene, Saskia; Ropers, Fabienne Gwendolin; Wieland, Jannelien; Rybak, Tamara; Wildschut, Floor; Berghuis, Dagmar; Morgan, Angela; Trelles, Maria Pilar; Scheepe, Jeroen Ronald; Boekenkamp, Regina; Peeters-Scholte, Cacha M. P. C. D.; Braden, Ruth; Santen, Gijs W. E. Share Save
Share Save
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant Aerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde Share Save
The Phenotypic Continuum of ATP1A3-Related Disorders Vezyroglou, Aikaterini; Akilapa, Rhoda; Barwick, Katy; Koene, Saskia; Brownstein, Catherine A.; Holder-Espinasse, Muriel; Fry, Andrew E.; Nemeth, Andrea H.; Tofaris, George K.; Hay, Eleanor; Hughes, Imelda; Mansour, Sahar; Mordekar, Santosh R.; Splitt, Miranda; Turnpenny, Peter D.; Demetriou, Demetria; Koopmann, Tamara T.; Ruivenkamp, Claudia A. L.; Agrawal, Pankaj B.; Carr, Lucinda; Clowes, Virginia; Ghali, Neeti; Holder, Susan Elizabeth; Radley, Jessica; Male, Alison; Sisodiya, Sanjay M.; Kurian, Manju A.; Cross, J. Helen; Balasubramanian, Meena Share Save
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs Share Save
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature Lauffer, Peter; Boudin, Eveline; van der Kaay, Danielle C. M.; Koene, Saskia; van Haeringen, Arie; van Tellingen, Vera; Van Hul, Wim; Prickett, Timothy C. R.; Mortier, Geert; Espiner, Eric A.; van Duyvenvoorde, Hermine A. Share Save
Share Save
Share Save
Share Save
Share Save
Share Save
The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders Janssen, Mirian C. H.; Koene, Saskia; de Laat, Paul; Hemelaar, Pleun; Pickkers, Peter; Spaans, Edwin; Beukema, Rypko; Beyrath, Julien; Groothuis, Jan; Verhaak, Chris; Smeitink, Jan Share Save
Share Save
Share Save
Share Save
Share Save
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Not logged in.png){kind=icon}