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Entries: 1-7  
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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
Authors: Zenker, Martin; Horn, Denise; Wieczorek, Dagmar; Allanson, Judith; Pauli, Silke; Van der Burgt, Ineke; Doerr, Helmuth-Guenther; Gaspar, Harald; Hofbeck, Michael; Gillessen-Kaesbach, Gabriele; Koch, Andreas; Meinecke, Peter; Mundlos, Stefan; Nowka, Anja; Rauch, Anita; Reif, Silke; Von Schnakenburg, Christian; Seidel, Heide; Wehner, Lars-Erik; Zweier, Christiane; Bauhuber, Susanne; Matejas, Verena; Kratz, Christian P.; Thomas, Christoph; Kutsche, Kerstin
Date of Publication (YYYY-MM-DD): 2007-06-23
Title of Journal: Journal of Medical Genetics
Volume: 44
Start Page: 651
End Page: 656
Sequence Number of Article: 1
Document Type: Article
ID: 324398.0
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation
Authors: Van der Burgt, Ineke; Kupsky, William; Stassou, Stephani; Nadroo, Ali; Barroso, Cândida; Diem, Angelika; Kratz, Christian P.; Dvorsky, Radovan; Ahmadian, Mohammad Reza; Zenker, Martin
Date of Publication (YYYY-MM-DD): 2007-04-05
Title of Journal: Journal of Medical Genetics
Volume: 44
Issue / Number: 7
Start Page: 459
End Page: 462
Sequence Number of Article: 1
Document Type: Article
ID: 319951.0
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
Germline KRAS mutations cause Noonan syndrome
Authors: Schubbert, Suzanne; Zenker, Martin; Rowe, Sara L .; Böll, Silke; Klein, Cornelia; Bollag, Gideon; van der Burgt, Ineke; Musante, Luciana; Kalscheuer, Vera M.; Wehner, Lars-Erik; Nguyen, Hoa; West, Brian; Zhang, Kam Y. J.; Sistermans, Erik; Rauch, Anita; Niemeyer, Charlotte M.; Shannon, Kevin; Kratz, Christian P.
Date of Publication (YYYY-MM-DD): 2006-02-12
Title of Journal: Nature Genetics
Volume: 38
Issue / Number: 3
Start Page: 331
End Page: 336
Document Type: Article
ID: 307757.0
 
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
Entries: 1-7  
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