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non-syndromic
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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
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring
2016 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
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
Hepatoblastoma, etiology, case reports
2016 |
Second Faculty of Medicine
publication
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
2016 |
Second Faculty of Medicine
publication
Patient with Cowden syndrome caused by mutations in the PTEN gene
2014 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair
2014 |
Second Faculty of Medicine
publication
Birt-Hogg-Dubé syndrome
2012 |
Second Faculty of Medicine
publication
Hereditary diffuse gastric cancer
2012 |
Second Faculty of Medicine
publication
Juvenile polyposis syndrome
2012 |
Second Faculty of Medicine
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