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Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. [electronic resource] by
- Zhang, Litu
- Tümer, Zeynep
- Møllgård, Kjeld
- Barbi, Gotthold
- Rossier, Eva
- Bendsen, Eske
- Møller, Rikke Steensbjerre
- Ullmann, Reinhard
- He, Jian
- Papadopoulos, Nickolas
- Tommerup, Niels
- Larsen, Lars Allan
Producer: 20091008
In:
European journal of human genetics : EJHG vol. 17
Availability: No items available.
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Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome. [electronic resource] by
- Lund, Caroline
- Striano, Pasquale
- Sorte, Hanne Sørmo
- Parisi, Pasquale
- Iacomino, Michele
- Sheng, Ying
- Vigeland, Magnus D
- Øye, Anne-Marte
- Møller, Rikke Steensbjerre
- Selmer, Kaja K
- Zara, Federico
Publication details: Molecular syndromology Sep 2016
In:
Molecular syndromology vol. 7
Availability: No items available.
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The role of SLC2A1 in early onset and childhood absence epilepsies. [electronic resource] by
- Muhle, Hiltrud
- Helbig, Ingo
- Frøslev, Tobias Guldberg
- Suls, Arvid
- von Spiczak, Sarah
- Klitten, Laura Line
- Dahl, Hans Atli
- Brusgaard, Klaus
- Neubauer, Bernd
- De Jonghe, Peter
- Tommerup, Niels
- Stephani, Ulrich
- Hjalgrim, Helle
- Møller, Rikke Steensbjerre
Producer: 20140211
In:
Epilepsy research vol. 105
Availability: No items available.
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The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. [electronic resource] by
- Larsen, Jan
- Johannesen, Katrine Marie
- Ek, Jakob
- Tang, Shan
- Marini, Carla
- Blichfeldt, Susanne
- Kibaek, Maria
- von Spiczak, Sarah
- Weckhuysen, Sarah
- Frangu, Mimoza
- Neubauer, Bernd Axel
- Uldall, Peter
- Striano, Pasquale
- Zara, Federico
- Kleiss, Rebecca
- Simpson, Michael
- Muhle, Hiltrud
- Nikanorova, Marina
- Jepsen, Birgit
- Tommerup, Niels
- Stephani, Ulrich
- Guerrini, Renzo
- Duno, Morten
- Hjalgrim, Helle
- Pal, Deb
- Helbig, Ingo
- Møller, Rikke Steensbjerre
Producer: 20160408
In:
Epilepsia vol. 56
Availability: No items available.
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Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. [electronic resource] by
- Jønch, Aia Elise
- Douard, Elise
- Moreau, Clara
- Van Dijck, Anke
- Passeggeri, Marzia
- Kooy, Frank
- Puechberty, Jacques
- Campbell, Carolyn
- Sanlaville, Damien
- Lefroy, Henrietta
- Richetin, Sonia
- Pain, Aurelie
- Geneviève, David
- Kini, Usha
- Le Caignec, Cédric
- Lespinasse, James
- Skytte, Anne-Bine
- Isidor, Bertrand
- Zweier, Christiane
- Caberg, Jean-Hubert
- Delrue, Marie-Ange
- Møller, Rikke Steensbjerre
- Bojesen, Anders
- Hjalgrim, Helle
- Brasch-Andersen, Charlotte
- Lemyre, Emmanuelle
- Ousager, Lilian Bomme
- Jacquemont, Sébastien
Producer: 20200615
In:
Journal of medical genetics vol. 56
Availability: No items available.
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