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thyroidal
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MUDr. Alena Puchmajerová
External person at Second Faculty of Medicine
42 publications
Publications
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
Our experience with analysis of the PTEN gene in patients suspected of having Cowden syndrome
2010 |
Second Faculty of Medicine
publication
Cowden syndrome
2009 |
Second Faculty of Medicine
publication
A novel mutation of PTEN gene in a patient with Cowden syndrome with excessive papillomatosis of the lips, discrete cutaneous lesions, and gastrointestinal polyposis
2007 |
Second Faculty of Medicine
publication
Inherited ichthyoses: molecular causes of the disease in Czech patients
2019 |
Publication without faculty affiliation
publication
Two Cases of CNS Atypical Theratoid Rhabdoid Tumor and Review of Literature
2017 |
Second Faculty of Medicine
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
Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children
2016 |
Second Faculty of Medicine
publication
Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene - Case Report
2016 |
Second Faculty of Medicine
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