Search

Author/Creator Friez, Michael

2. Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia. Issue 1 (December 2018)

Authors:
Latham, Sharissa; Ehmke, Nadja; Reinke, Patrick; Taft, Manuel; Eicke, Dorothee; Reindl, Theresia; Stenzel, Werner; Lyons, Michael; Friez, Michael; Lee, Jennifer; Hecker, Ramona; Frühwald, Michael; Becker, Kerstin; Neuhann, Teresa; Horn, Denise; Schrock, Evelin; Niehaus, Indra; Sarnow, Katharina; ...
Journal:
Nature communications
Issue:
Volume 9:Issue 1(2018)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. (4th December 2015)

Authors:
Bronicki, Lucas; Redin, Claire; Drunat, Severine; Piton, Amélie; Lyons, Michael; Passemard, Sandrine; Baumann, Clarisse; Faivre, Laurence; Thevenon, Julien; Rivière, Jean-Baptiste; Isidor, Bertrand; Gan, Grace; Francannet, Christine; Gunel, Murat; Jones, Julie; Gleeson, Joseph; Willems, Marjolain...
Journal:
Journal of medical genetics
Issue:
Volume 52(2015)Supplement 1
Page Start:
A2
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods. Issue 8 (2nd December 2021)

Authors:
McKnight, Dianalee; Bean, Lora; Karbassi, Izabela; Beattie, Katelynn; Bienvenu, Thierry; Bonin, Hope; Fang, Ping; Chrisodoulou, John; Friez, Michael; Helgeson, Maria; Krishnaraj, Rahul; Meng, Linyan; Mighion, Lindsey; Neul, Jeffrey; Percy, Alan; Ramsden, Simon; Zoghbi, Huda; Das, Soma
Other Names:
Laner Andreas guestEditor.; Maver Ales guestEditor.; den Dunnen Johan T. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 8(2022)
Page Start:
1097
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗