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Entries: 1-9  
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Mapping translocation breakpoints by next-generation sequencing
Authors: Chen, Wei; Kalscheuer, Vera; Tzschach, Andreas; Menzel, Corinna; Ullmann, Reinhard; Schulz, Marcel Holger; Erdogan, Fikret; Na, Li; Kijas, Zofia; Arkesteijn, Ger; Pajares, Isidora Lopez; Goetz-Sothmann, Margret; Heinrich, Uwe; Rost, Imma; Dufke, Andreas; Grasshoff, Ute; Glaeser, Birgitta; Vingron, Martin; Ropers, H. Hilger
Date of Publication (YYYY-MM-DD): 2008-03-07
Title of Journal: Genome Research
Volume: 18
Issue / Number: 7
Start Page: 1143
End Page: 1149
Document Type: Article
ID: 403095.0
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2006-11-19
Title of Journal: American Journal of Medical Genetics Part A
Volume: 132A
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 305422.0
 
Full text / Content available
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2006-11-19
Title of Journal: American Journal of Medical Genetics Part A
Volume: 132A
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 305426.0
 
Full text / Content available
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera M.; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2005-01-01
Title of Journal: American Journal of Medical Genetics : Part A
Volume: 132
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 271957.0
 
Full text / Content available
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera M.; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2005-01-01
Title of Journal: American Journal of Medical Genetics : Part A
Volume: 132
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 273072.0
 
Full text / Content available
Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing
Authors: Winter, Jennifer; Lehmann, Tanja; Krauß, Sybille; Trockenbacher, Alexander; Kijas, Zofia; Foerster, John; Suckow, Vanessa; Yaspo, Marie-Laure; Kulozik, Andreas; Kalscheuer, Vera M.; Schneider, Rainer; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2004-03-31
Title of Journal: Human Genetics
Volume: 114
Issue / Number: 6
Start Page: 541
End Page: 552
Document Type: Article
ID: 225768.0
Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing
Authors: Winter, Jennifer; Lehmann, Tanja; Krauß, Sybille; Trockenbacher, Alexander; Kijas, Zofia; Foerster, John; Suckow, Vanessa; Yaspo, Marie-Laure; Kulozik, Andreas; Kalscheuer, Vera M.; Schneider, Rainer; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2004-03-31
Title of Journal: Human Genetics
Volume: 114
Issue / Number: 6
Start Page: 541
End Page: 552
Document Type: Article
ID: 229504.0
Evaluation of the IRF-2 gene as a candidate for PSORS3
Authors: Foerster, John; Nolte, Ilja; Schweiger, Susann; Ehlert, Claudia; Bruinenberg, Marcel; Spaar, Katja; van der Steege, Gerrit; Mulder, Marcel; Kalscheuer, Vera M.; Moser, Bettina; Kijas, Zofia; Seeman, Petra; Ständer, Markward; Sterry, Wolfram; te Meerman, Gerard
Date of Publication (YYYY-MM-DD): 2004-01-01
Title of Journal: Journal of Investigative Dermatology
Volume: 122
Issue / Number: 1
Start Page: 61
End Page: 64
Document Type: Article
ID: 224381.0
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
Authors: Winter, Jennifer; Lehmann, Tanja; Suckow, Vanessa; Kijas, Zofia; Kulozik, Andreas; Kalscheuer, Vera; Hamel, Ben; Devriendt, Koen; Opitz, John; Lenzner, Steffen; Ropers, Hans-Hilger; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2003-03
Title of Journal: Human Genetics
Volume: 112
Issue / Number: 3
Start Page: 249
End Page: 254
Document Type: Article
ID: 173649.0
Entries: 1-9  
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