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Author/Creator Seemanova, Eva

1. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Issue 11 (3rd August 2015)

Authors:
Cordeddu, Viviana; Yin, Jiani C.; Gunnarsson, Cecilia; Virtanen, Carl; Drunat, Séverine; Lepri, Francesca; De Luca, Alessandro; Rossi, Cesare; Ciolfi, Andrea; Pugh, Trevor J.; Bruselles, Alessandro; Priest, James R.; Pennacchio, Len A.; Lu, Zhibin; Danesh, Arnavaz; Quevedo, Rene; Hamid, Alaa; Mar...
Journal:
Human mutation
Issue:
Volume 36:Issue 11(2015:Nov.)
Page Start:
1080
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome. Issue 9 (8th July 2014)

Authors:
Schanze, Denny; Neubauer, Dorothée; Cormier‐Daire, Valerie; Delrue, Marie‐Ange; Dieux‐Coeslier, Anne; Hasegawa, Tomonobu; Holmberg, Eva E.; Koenig, Rainer; Krueger, Gabriele; Schanze, Ina; Seemanova, Eva; Shaw, Adam C.; Vogt, Julie; Volleth, Marianne; Reis, André; Meinecke, Peter; Hennekam, Raoul...
Journal:
Human mutation
Issue:
Volume 35:Issue 9(2014:Sep.)
Page Start:
1092
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome. Issue 5 (11th April 2013)

Authors:
Handley, Mark T.; Morris‐Rosendahl, Deborah J.; Brown, Stephen; Macdonald, Fiona; Hardy, Carol; Bem, Danai; Carpanini, Sarah M.; Borck, Guntram; Martorell, Loreto; Izzi, Claudia; Faravelli, Francesca; Accorsi, Patrizia; Pinelli, Lorenzo; Basel‐Vanagaite, Lina; Peretz, Gabriela; Abdel‐Salam, Ghada...
Journal:
Human mutation
Issue:
Volume 34:Issue 5(2013:May)
Page Start:
686
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗