Search Results

Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability by Anikster, Yair (Author) , Shen, Nan (Author) ,

• kostenfrei

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa by Callewaert, Bert (Author) , Su, Chi-Ting (Author) , Van Damme, Tim (Author) , Vlummens, Philip (Author) , Malfait, Fransiska (Author) , Vanakker, Olivier (Author) , Schulz, Bianca (Author) , Mac Neal, Meghan (Author) , Davis, Elaine C. (Author) , Lee, Joseph G. H. (Author) , Salhi, Aicha (Author) , Unger, Sheila (Author) , Heimdal, Ketil (Author) , De Almeida, Salome (Author) , Kornak, Uwe (Author) , Gaspar, Harald (Author) , Bresson, Jean-Luc (Author) , Prescott, Katrina (Author) , Gosendi, Maria E. (Author) , Mansour, Sahar (Author) , Piérard, Gérald E. (Author) , Madan-Khetarpal, Suneeta (Author) , Sciurba, Frank (Author) , Symoens, Sofie (Author) , Coucke, Paul J. (Author) , Van Maldergem, Lionel (Author) , Urban, Zsolt (Author) , De Paepe, Anne (Author) ,

Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2 by Aidery, Parwez (Author) , Kisselbach, Jana (Author) , Gaspar, Harald (Author) , Baldea, Ioana (Author) , Schweizer, Patrick Alexander (Author) , Becker, Rüdiger (Author) , Katus, Hugo (Author) , Thomas, Dierk (Author) ,

• Volltext

Impaired ion channel function related to a common KCNQ1 mutation: implications for risk stratification in long QT syndrome 1 by Aidery, Parwez (Author) , Kisselbach, Jana (Author) , Schweizer, Patrick Alexander (Author) , Becker, Rüdiger (Author) , Katus, Hugo (Author) , Thomas, Dierk (Author) ,

• Volltext

High levels of brain-type creatine kinase activity in human platelets and leukocytes: a genetic anomaly with autosomal dominant inheritance by Arnold, Heidwolf (Author) , Kemp, Katharina (Author) , Bugert, Peter (Author) ,

• Volltext

Origin of pancreatic ductal adenocarcinoma from atypical flat lesions: a comparative study in transgenic mice and human tissues by Aichler, Michaela (Author) , Seiler, Christopher (Author) ,

• Volltext

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations by Pfarr, Nicole (Author) , Szamalek-Hoegel, Justyna (Author) , Fischer, Christine (Author) , Hinderhofer, Katrin (Author) , Nagel, Christian (Author) , Benjamin, Nicola (Author) , Tiede, Henning (Author) , Olschewski, Horst (Author) , Reichenberger, Frank (Author) , Ghofrani, Ardeschir H. A. (Author) , Seeger, Werner (Author) , Grünig, Ekkehard (Author) ,

• lizenzpflichtig

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone by Bleyer, Anthony J. (Author) , Zivná, M. (Author) , Hulková, H. (Author) , Hodanová, K. (Author) , Vyletal, P. (Author) , Sikora, J. (Author) , Zivný, J. (Author) , Sovová, J. (Author) , Hart, T. C. (Author) , Adams, J. N. (Author) , Elleder, M. (Author) , Kapp, Katharina (Author) , Haws, R. (Author) , Cornell, L. D. (Author) , Kmoch, S. (Author) , Hart, P. S. (Author) ,

Multiple melanomas after treatment for Hodgkin lymphoma in a non-Dutch p16-Leiden mutation carrier with 2 MC1R high-risk variants by Figl, Adina (Author) , Ugurel, Selma (Author) , Gast, Andreas (Author) , Hemminki, Kari (Author) , Kumar, Rajiv (Author) , Schadendorf, Dirk (Author) ,

• lizenzpflichtig

Gene for susceptibility to diabetic nephropathy in type 2 diabetes maps to 18q22.3-23 by Vardarli, Irfan (Author) , Baier, Leslie J. (Author) , Hanson, Robert L. (Author) , Akkoyun, Imren (Author) , Fischer, Christine (Author) , Rohmeiss, Peter (Author) , Basci, Ali (Author) , Bartram, Claus R. (Author) , Woude, Fokko J. van der (Author) , Janssen, Bart (Author) ,

• lizenzpflichtig
• lizenzpflichtig

Familial occurrence of systemic vasculitis and rapidly progressive glomerulonephritis by Nowack, Rainer (Author) , Lehmann, Harald (Author) , Flores-Suárez, Luis Felipe (Author) , Nanhou, Alice (Author) , Woude, Fokko J. van der (Author) ,

• lizenzpflichtig
• lizenzpflichtig