Results
|
1.
|
|
|
2.
|
|
|
3.
|
|
|
4.
|
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. [electronic resource] by
- Abela, Lucia
- Spiegel, Ronen
- Crowther, Lisa M
- Klein, Andrea
- Steindl, Katharina
- Papuc, Sorina Mihaela
- Joset, Pascal
- Zehavi, Yoav
- Rauch, Anita
- Plecko, Barbara
- Simmons, Thomas Luke
Producer: 20170905
In:
PloS one vol. 12
Availability: No items available.
|
|
5.
|
|
|
6.
|
A novel distal upstream hypoxia response element regulating oxygen-dependent erythropoietin gene expression. [electronic resource] by
- Storti, Federica
- Santambrogio, Sara
- Crowther, Lisa M
- Otto, Teresa
- Abreu-Rodríguez, Irene
- Kaufmann, Muriel
- Hu, Cheng-Jun
- Dame, Christof
- Fandrey, Joachim
- Wenger, Roland H
- Hoogewijs, David
Producer: 20150413
In:
Haematologica vol. 99
Availability: No items available.
|
|
7.
|
ABC transporter activity linked to radiation resistance and molecular subtype in pediatric medulloblastoma. [electronic resource] by
- Ingram, Wendy J
- Crowther, Lisa M
- Little, Erica B
- Freeman, Ruth
- Harliwong, Ivon
- Veleva, Desi
- Hassall, Timothy E
- Remke, Marc
- Taylor, Michael D
- Hallahan, Andrew R
Producer: 20131113
In:
Experimental hematology & oncology vol. 2
Availability: No items available.
|
|
8.
|
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. [electronic resource] by
- Abela, Lucia
- Simmons, Luke
- Steindl, Katharina
- Schmitt, Bernhard
- Mastrangelo, Massimo
- Joset, Pascal
- Papuc, Mihaela
- Sticht, Heinrich
- Baumer, Alessandra
- Crowther, Lisa M
- Mathis, Déborah
- Rauch, Anita
- Plecko, Barbara
Producer: 20161017
In:
Journal of inherited metabolic disease vol. 39
Availability: No items available.
|
|
9.
|
Confirmation of mutations in [electronic resource] by
- Plecko, Barbara
- Zweier, Markus
- Begemann, Anaïs
- Mathis, Deborah
- Schmitt, Bernhard
- Striano, Pasquale
- Baethmann, Martina
- Vari, Maria Stella
- Beccaria, Francesca
- Zara, Federico
- Crowther, Lisa M
- Joset, Pascal
- Sticht, Heinrich
- Papuc, Sorina Mihaela
- Rauch, Anita
Producer: 20180703
In:
Journal of medical genetics vol. 54
Availability: No items available.
|
|
10.
|
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. [electronic resource] by
- Papuc, Sorina M
- Abela, Lucia
- Steindl, Katharina
- Begemann, Anaïs
- Simmons, Thomas L
- Schmitt, Bernhard
- Zweier, Markus
- Oneda, Beatrice
- Socher, Eileen
- Crowther, Lisa M
- Wohlrab, Gabriele
- Gogoll, Laura
- Poms, Martin
- Seiler, Michelle
- Papik, Michael
- Baldinger, Rosa
- Baumer, Alessandra
- Asadollahi, Reza
- Kroell-Seger, Judith
- Schmid, Regula
- Iff, Tobias
- Schmitt-Mechelke, Thomas
- Otten, Karoline
- Hackenberg, Annette
- Addor, Marie-Claude
- Klein, Andrea
- Azzarello-Burri, Silvia
- Sticht, Heinrich
- Joset, Pascal
- Plecko, Barbara
- Rauch, Anita
Producer: 20190520
In:
European journal of human genetics : EJHG vol. 27
Availability: No items available.
|