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gene cause
Person
Class
Person
Publication
Programmes
doc. MUDr. Alice Baxová CSc.
Academic staff at First Faculty of Medicine
2 classes
64 publications
Classes
class
Clinical Genetics 1
B00130 |
First Faculty of Medicine
class
Clinical Genetics 2
B00404 |
First Faculty of Medicine
Publications
publication
Analysis of common SHOX gene sequence variants and similar to 4.9-kb PAR1 deletion in ISS patients
+1
2014 |
Faculty of Science, First Faculty of Medicine
publication
We have a daughter or not? Androgen insensivity syndrome
2014 |
First Faculty of Medicine
publication
X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports
2013 |
First Faculty of Medicine, Second Faculty of Medicine
publication
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis
2012 |
Faculty of Science, First Faculty of Medicine
publication
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Leri-Weill dyschondrosteosis
2012 |
First Faculty of Medicine
publication
APOE epsilon 4: a potential modulation factor in Rett syndrome
2010 |
First Faculty of Medicine
publication
SHOX gene deficiency - a cause of familial short stature.
2010 |
First Faculty of Medicine
publication
Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia
2009 |
First Faculty of Medicine
publication
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
2007 |
First Faculty of Medicine
publication
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
2007 |
Faculty of Physical Education and Sport
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