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germline mutations
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RNDr. Eliška Václavíková Ph.D.
External person at Central Library of Charles University
29 publications
Publications
publication
Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene
2012 |
Faculty of Science, First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest
2009 |
First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
publication
Implication of molecular genetic examination in a three generational family with multiple endocrine neoplasia type 2A
2007 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Central Library of Charles University, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine
publication
Implication of molecular genetic examination in a three generational family with multiple endocrine neoplasia type 2A
2007 |
Central Library of Charles University, Faculty of Medicine in Hradec Králové
publication
Double Germline Mutations in the RET Proto-oncogene in MEN 2A and MEN 2B Kindreds
2006 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine
publication
New multiple somatic mutations in the RET proto-oncogene associated with a sporadic medullary thyroid carcinoma
2006 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine
publication
Double Germline Mutations in the RET Proto-oncogene in MEN 2A and MEN 2B Kindreds
2006 |
Central Library of Charles University, Faculty of Medicine in Hradec Králové
publication
New multiple somatic mutations in the RET proto-oncogene associated with a sporadic medullary thyroid carcinoma
2006 |
First Faculty of Medicine, Central Library of Charles University
publication
A 3-bp Deletion VK600-1E in the BRAF Gene Detected in a Young Woman with Papillary Thyroid Carcinoma
2015 |
First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
publication
A novel RET/PTC variant detected in a pediatric patient with papillary thyroid cancer without ionization history
2015 |
Faculty of Science, First Faculty of Medicine, Second Faculty of Medicine
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