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Complex Phenotype
Publication
Class
Person
Publication
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publication
NFKB2 Mutation Diagnosed by Whole Exome Sequencing (WES) in a Patient with Complex Phenotype and Hypogammaglobulinemia
2019 |
Second Faculty of Medicine
publication
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood
2019 |
Second Faculty of Medicine
publication
Sport genomics: Genetic determinants of human movement
2017 |
Faculty of Physical Education and Sport
publication
DiS-C3(3) monitoring of in vivo mitochondrial membrane potential in C. elegans
2007 |
Faculty of Mathematics and Physics
publication
Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15
2013 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Arabidopsis thaliana plants lacking the ARP2/3 complex show defects in cell wall assembly and auxin distribution
2018 |
Faculty of Science
publication
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
2020 |
First Faculty of Medicine