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gene cause
Person
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Person
Publication
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MUDr. Anna Křepelová CSc.
Academic staff at Second Faculty of Medicine
140 publications
Publications
publication
A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia
2014 |
Second Faculty of Medicine
publication
Spinocerebellar Ataxias Type 8, 12, and 17 and Dentatorubro-Pallidoluysian Atrophy in Czech Ataxic Patients
2013 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Strategy for diagnosis, therapy and follow-up of patiens with CNS haemangioblastoma from the perspective of a neurosurgeon
2013 |
Second Faculty of Medicine
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, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
publication
Molecular Cytogenetic Characterization in Four Pediatric Pheochromocytomas and Paragangliomas
2011 |
Faculty of Science, First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Molecular cytogenetic characterization of pheochromocytoma
2010 |
Faculty of Science, First Faculty of Medicine, Second Faculty of Medicine, Faculty of Mathematics and Physics, Faculty of Physical Education and Sport
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
Biochemical Markers and genetic Research of ADHD
2009 |
First Faculty of Medicine
publication
Biochemical markers and genetic research of ADHD
2005 |
First Faculty of Medicine
publication
Vitamin D receptor gene polymorphisms, bone mineral density and bone turnover: folk genotype is related to postmenopausal bone mass
2002 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Arts
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