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DEFECTS
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MUDr. Alena Puchmajerová
External person at Second Faculty of Medicine
42 publications
Publications
publication
Inherited ichthyoses: molecular causes of the disease in Czech patients
2019 |
Publication without faculty affiliation
publication
Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis of the disease
2016 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype
2015 |
Second Faculty of Medicine
publication
Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair
2014 |
Second Faculty of Medicine
publication
Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
2013 |
Second Faculty of Medicine
publication
Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency
2012 |
Second Faculty of Medicine
publication
anamnézy; defekt jednoho genu
2006 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Central Library of Charles University, Third Faculty of Medicine
publication
Relationship between Genotype and Phenotype in Patients with Microdeletion of Chromosome 22q11
2001 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Williams-Beuren syndrome
2000 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Chromosomal Aberration in Inborn Cardiac Defects and their Diagnosis Using the FISH Method
1999 |
Second Faculty of Medicine
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