Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Regina Kom-Gortat"'
Autor:
Dingeman C. Rijken, Marjon H. Cnossen, Moniek P.M. de Maat, Marieke J. H. A. Kruip, Elise J Huisman, Frank W G Leebeek, Caroline S B Veen, Regina Kom-Gortat
Publikováno v:
Haemophilia, 26(3), E106-E115. Wiley-Blackwell Publishing Ltd
Introduction: Diagnostic evaluation of patients with a bleeding tendency remains challenging, as no disorder is identified in approximately 50% of patients. An impaired interplay of several haemostatic factors might explain bleeding phenotype in thes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::998c042fd14fcaa709771e6790de68cc
https://doi.org/10.1111/hae.13991
https://doi.org/10.1111/hae.13991
Autor:
Daniel Kümmel, Mark Nellist, Mitra Hosseinzadeh, Rosemary Ekong, Nicola Migone, Sue Povey, Annegien Kenter, Luiz Gustavo Dufner Almeida, Andrea Zonta, Santoesha Nanhoe, Peter Elfferich, Gerben J. Schaaf, Regina Kom‐Gortat
Publikováno v:
Human Mutation, 41, 759-773. Wiley-Liss Inc.
Human Mutation
Human Mutation
The TSC1 and TSC2 gene products interact to form the tuberous sclerosis complex (TSC), an important negative regulator of the mechanistic target of rapamycin complex 1 (TORC1). Inactivating mutations in TSC1 or TSC2 cause TSC, and the identification
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25f20b113f6f40b5ad1e2bfa26984e2b
https://hdl.handle.net/1765/122933
https://hdl.handle.net/1765/122933