Search

Author/Creator Zenker, Martin

3. Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders. Issue 12 (24th September 2013)

Authors:
Schanze, Denny; Harakalova, Magdalena; Stevens, Cathy A.; Brancati, Francesco; Dallapiccola, Bruno; Farndon, Peter; Ferraz, Victor E. F.; McDonald‐McGinn, Donna M.; Zackai, Elaine H.; Wright, Michael; van Lieshout, Stef; Vogel, Maartje J.; van Haelst, Mieke M.; Zenker, Martin
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 12(2013:Dec.)
Page Start:
3012
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders. Issue 12 (24th September 2013)

Authors:
Schanze, Denny; Harakalova, Magdalena; Stevens, Cathy A.; Brancati, Francesco; Dallapiccola, Bruno; Farndon, Peter; Ferraz, Victor E. F.; McDonald‐McGinn, Donna M.; Zackai, Elaine H.; Wright, Michael; van Lieshout, Stef; Vogel, Maartje J.; van Haelst, Mieke M.; Zenker, Martin
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 12(2013:Dec.)
Page Start:
3012
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. ABO blood type B and fucosyltransferase 2 non-secretor status as genetic risk factors for chronic pancreatitis. Issue 2 (28th April 2015)

Authors:
Weiss, Frank Ulrich; Schurmann, Claudia; Teumer, Alexander; Mayerle, Julia; Simon, Peter; Völzke, Henry; Greinacher, Andreas; Kuehn, Jens-Peter; Zenker, Martin; Völker, Uwe; Homuth, Georg; Lerch, Markus M
Journal:
Gut
Issue:
Volume 65:Issue 2(2016)
Page Start:
353
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy. (21st May 2019)

Authors:
Motta, Marialetizia; Sagi-Dain, Lena; Krumbach, Oliver H F; Hahn, Andreas; Peleg, Amir; German, Alina; Lissewski, Christina; Coppola, Simona; Pantaleoni, Francesca; Kocherscheid, Luisa; Altmüller, Franziska; Schanze, Denny; Logeswaran, Thushiha; Chahrokh-Zadeh, Soheyla; Munzig, Anna; Nakhaei-Rad,...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 11(2020)
Page Start:
1772
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Issue 11 (3rd August 2015)

Authors:
Cordeddu, Viviana; Yin, Jiani C.; Gunnarsson, Cecilia; Virtanen, Carl; Drunat, Séverine; Lepri, Francesca; De Luca, Alessandro; Rossi, Cesare; Ciolfi, Andrea; Pugh, Trevor J.; Bruselles, Alessandro; Priest, James R.; Pennacchio, Len A.; Lu, Zhibin; Danesh, Arnavaz; Quevedo, Rene; Hamid, Alaa; Mar...
Journal:
Human mutation
Issue:
Volume 36:Issue 11(2015:Nov.)
Page Start:
1080
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes. Issue 12 (4th October 2019)

Authors:
Akgun‐Dogan, Ozlem; Simsek‐Kiper, Pelin O.; Taskiran, Ekim; Lissewski, Christina; Brinkmann, Julia; Schanze, Denny; Göçmen, Rahşan; Cagdas, Deniz; Bilginer, Yelda; Utine, Gülen E.; Zenker, Martin; Ozen, Seza; Tezcan, İlhan; Alikasifoglu, Mehmet; Boduroğlu, Koray
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 12(2019)
Page Start:
2474
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗