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MUDr. Alena Puchmajerová
External person at Second Faculty of Medicine
42 publications
Publications
publication
Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene - Case Report
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
Tuberous Sclerosis Complex in children followed from neonatal period for prenatally diagnosed cardiac rhabdomyoma - two case reports
2013 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Birt-Hogg-Dubé syndrome
2012 |
Second Faculty of Medicine
publication
Clinical genetics in breast cancer
2012 |
Second Faculty of Medicine
publication
Hereditary diffuse gastric cancer
2012 |
Second Faculty of Medicine
publication
Paraganglioma in a 13-year-old girl: A novel SDHB gene mutation in the family?
2010 |
Faculty of Science, First Faculty of Medicine, 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
Cases of LiFraumeni syndrome: diagnostic and preventive possibilities
2006 |
Second Faculty of Medicine
publication
Inherited ichthyoses: molecular causes of the disease in Czech patients
2019 |
Publication without faculty affiliation
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