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mutations
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MUDr. Mária Šenkeříková
External academic staff at Faculty of Medicine in Hradec Králové
1 class
15 publications
Class
class
Clinical Genetics
FBV1028 |
Faculty of Medicine in Hradec Králové
Publications
publication
Congenital Central Hypoventilation Syndrome (Ondine's Curse)
2015 |
Faculty of Medicine in Hradec Králové
publication
Hypersensitivity to chemoradiation in FANCA carrier with cervical carcinoma - A case report and review of the literature
2015 |
Faculty of Medicine in Hradec Králové
publication
Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report
2011 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Tuberous sclerosis
2011 |
Faculty of Medicine in Hradec Králové
publication
Loeys-Dietz syndrome, type II - case report
2011 |
Publication without faculty affiliation
publication
Neurofibromatosis
2011 |
Publication without faculty affiliation
publication
Fahr's Syndrome: Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures
2022 |
Faculty of Medicine in Hradec Králové
publication
SMARCA4-Deficient Carcinoma of Uterine Cervix Resembling SCCOHT-Case Report
2021 |
Faculty of Medicine in Hradec Králové
publication
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring
2016 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Duplex methylation-specific semi-quantitative real-time PCR for cost-effective & time-efficient diagnostic screening of chromosome 15 and 14 imprinted regions
2015 |
Publication without faculty affiliation
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