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Deletion
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MUDr. Romana Mihalová
Academic staff at First Faculty of Medicine
40 publications
Publications
publication
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient
2020 |
First Faculty of Medicine, Central Library of Charles University, 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
Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the czech population
2011 |
Faculty of Science, First Faculty of Medicine
publication
Cryptic Chromosomal Rearrangements in Children with Idiopathic Mental Retardation in the Czech Population
2011 |
First Faculty of Medicine
publication
PAR1 deletion/duplication in patients with dyschondrosteosis or idiopathic short stature
Publication without faculty affiliation
publication
MLPA analysis in children with mental retardation
Publication without faculty affiliation
publication
SHOX gene polymorphic variants and their association with isolated short stature
Publication without faculty affiliation
publication
Heterochromatin area of chromosome 9. Evolution aspects and methods of molecular cytogenetic diagnostics for clinical practice
Publication without faculty affiliation
publication
The MLPA Metod in diagnostic of SHOX gene and PAR1 deletions
Publication without faculty affiliation
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