Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients
Suls, Arvid, Claeys, Kristl G., Goossens, Dirk, Harding, Boris, Luijk, Rob Van, Scheers, Stefaan, Deprez, Liesbet, Audenaert, Dominique, Dyck, Tine Van, Beeckmans, Sabine, Smouts, Iris, Ceulemans, Berten, Lagae, Lieven, Buyse, Gunnar, Barisic, Nina, Misson, Jean-Paul, Wauters, Jan, Del-Favero, Jurgen, De Jonghe, Peter, Claes, Lieve R.F.
Published in Human mutation (01.09.2006)
Published in Human mutation (01.09.2006)
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Journal Article
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities
Van Dijck, Anke, van der Werf, Ilse M, Reyniers, Edwin, Scheers, Stefaan, Azage, Meron, Siefkas, Kiana, Van der Aa, Nathalie, Lacroix, Amy, Rosenfeld, Jill, Argiropoulos, Bob, Davis, Kellie, Innes, A.Micheil, Mefford, Heather C, Mortier, Geert, Meuwissen, Marije, Kooy, R.Frank
Published in European journal of medical genetics (01.10.2015)
Published in European journal of medical genetics (01.10.2015)
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Journal Article
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)
Rooms, Liesbeth, Reyniers, Edwin, Luijk, Rob van, Scheers, Stefaan, Wauters, Jan, Ceulemans, Berten, Van Den Ende, Jenneke, Van Bever, Yolande, Kooy, R. Frank
Published in Human mutation (01.01.2004)
Published in Human mutation (01.01.2004)
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Journal Article
TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions
ROOMS, Liesbeth, REYNIERS, Edwin, COURTENS, Winnie, KOOY, R. Frank, SCHEERS, Stefaan, VAN LUIJK, Rob, WAUTERS, Jan, VAN AERSCHOT, Leen, CALLAERTS-VEGH, Zsuzsanna, D'HOOGE, Rudi, MENGUS, Gabrielle, DAVIDSON, Irwin
Published in European journal of human genetics : EJHG (01.10.2006)
Published in European journal of human genetics : EJHG (01.10.2006)
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Journal Article
Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype
van Bever, Yolande, Rooms, Liesbeth, Laridon, Annick, Reyniers, Edwin, van Luijk, Rob, Scheers, Stefaan, Wauters, Jan, Kooy, R. Frank
Published in American journal of medical genetics. Part A (15.05.2005)
Published in American journal of medical genetics. Part A (15.05.2005)
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Journal Article
FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage
Debacker, Kim, Winnepenninckx, Birgitta, Ben-Porat, Neta, FitzPatrick, David, Van Luijk, Rob, Scheers, Stefaan, Kerem, Batsheva, Frank Kooy, R
Published in Journal of medical genetics (01.05.2007)
Published in Journal of medical genetics (01.05.2007)
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Journal Article
A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review
Courtens, Winnie, Wuyts, Wim, Scheers, Stefaan, Van Luijk, Rob, Reyniers, Edwin, Rooms, Liesbeth, Ceulemans, Berten, Kooy, Frank, Wauters, Jan
Published in European journal of medical genetics (01.09.2006)
Published in European journal of medical genetics (01.09.2006)
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Journal Article
Microdeletions involving theSCN1A gene may be common inSCN1A-mutation-negative SMEI patients
Suls, Arvid, Claeys, Kristl G., Goossens, Dirk, Harding, Boris, Luijk, Rob Van, Scheers, Stefaan, Deprez, Liesbet, Audenaert, Dominique, Dyck, Tine Van, Beeckmans, Sabine, Smouts, Iris, Ceulemans, Berten, Lagae, Lieven, Buyse, Gunnar, Barisic, Nina, Misson, Jean-Paul, Wauters, Jan, Del-Favero, Jurgen, De Jonghe, Peter, Claes, Lieve R.F.
Published in Human mutation (01.09.2006)
Published in Human mutation (01.09.2006)
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Journal Article
Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype
van Bever, Yolande, Rooms, Liesbeth, Laridon, Annick, Reyniers, Edwin, van Luijk, Rob, Scheers, Stefaan, Wauters, Jan, Kooy, R. Frank
Published in American Journal of Medical Genetics Part A (15.05.2005)
Published in American Journal of Medical Genetics Part A (15.05.2005)
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