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Author/Creator Rossier, Eva

1. ANKRD11 variants: KBG syndrome and beyond. Issue 2 (14th May 2021)

Authors:
Parenti, Ilaria; Mallozzi, Mark B.; Hüning, Irina; Gervasini, Cristina; Kuechler, Alma; Agolini, Emanuele; Albrecht, Beate; Baquero‐Montoya, Carolina; Bohring, Axel; Bramswig, Nuria C.; Busche, Andreas; Dalski, Andreas; Guo, Yiran; Hanker, Britta; Hellenbroich, Yorck; Horn, Denise; Innes, A. Mich...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 2(2021)
Page Start:
187
Record Type:
Journal Article
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2. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. Issue 8 (17th March 2016)

Authors:
Mignot, Cyril; von Stülpnagel, Celina; Nava, Caroline; Ville, Dorothée; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnès; Gachet, Benoit; Marie, Yannick; Korenke, G Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elżbieta; Rudzka-Dybała, Mariola; Yiş, Uluç; Çağlayan, Hande...
Other Names:
author non-byline.; Craiu Dana author non-byline.; De Jonghe Peter author non-byline.; Helbig Ingo author non-byline.; Guerrini Renzo author non-byline.; Lehesjoki Anna-Elina author non-byline.; Marini Carla author non-byline.; Muhle Hiltrud author non-byline.; Møller Rikke S author non-byline.;...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 8(2016)
Page Start:
511
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?. Issue 1 (December 2015)

Authors:
Ehret, Julia; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Zimmermann, Johannes; Wohlleber, Eva; Grasshoff, Ute; Rossier, Eva; Bonin, Michael; Mangold, Elisabeth; Bevot, Andrea; Schön, Stefanie; Heilmann-Heimbach, Stefanie; Dennert, Nicola; Mathieu-Dramard, Michèle; Lacaze, Elodie; Plessis,...
Journal:
Molecular cytogenetics
Issue:
Volume 8:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗