1. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Issue 3 (12th January 2013) Authors: Gordon, Christopher T; Vuillot, Alice; Marlin, Sandrine; Gerkes, Erica; Henderson, Alex; AlKindy, Adila; Holder-Espinasse, Muriel; Park, Sarah S; Omarjee, Asma; Sanchis-Borja, Mateo; Bdira, Eya Ben; Oufadem, Myriam; Sikkema-Raddatz, Birgit; Stewart, Alison; Palmer, Rodger; McGowan, Ruth; Petit, F... Journal: Journal of medical genetics Issue: Volume 50:Issue 3(2013) Page Start: 174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature123. Issue 4 (26th March 2013) Authors: Béna, Frédérique; Bruno, Damien L.; Eriksson, Mats; van Ravenswaaij‐Arts, Conny; Stark, Zornitza; Dijkhuizen, Trijnie; Gerkes, Erica; Gimelli, Stefania; Ganesamoorthy, Devika; Thuresson, Ann Charlotte; Labalme, Audrey; Till, Marianne; Bilan, Frédéric; Pasquier, Laurent; Kitzis, Alain; Dubourgm, C... Journal: American journal of medical genetics Issue: Volume 162:Issue 4(2013) Page Start: 388 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Primrose syndrome: Characterization of the phenotype in 42 patients. Issue 6 (20th April 2020) Authors: Melis, Daniela; Carvalho, Daniel; Barbaro‐Dieber, Tina; Espay, Alberto J.; Gambello, Michael J.; Gener, Blanca; Gerkes, Erica; Hitzert, Marrit M.; Hove, Hanne B.; Jansen, Sandra; Jira, Petr E.; Lachlan, Katherine; Menke, Leonie A.; Narayanan, Vinodh; Ortiz, Damara; Overwater, Eline; Posmyk, Renat... Journal: Clinical genetics Issue: Volume 97:Issue 6(2020) Page Start: 890 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗