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Down´s syndrome
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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
The importance of classical cytogenetic examination in clinical paediatric practice: analysis of 384 indications
2014 |
First Faculty of Medicine
publication
Variants of human chromosomes and their significance from the point of view of clinical genetics
2012 |
First Faculty of Medicine, Third 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
Advanced maternal age as a sole indication for amniocentesis – analysis of 418 fetal karyotypes
2011 |
First Faculty of Medicine
publication
Smith-Magenis syndrome: a case report
2008 |
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
Základy biologie a genetiky člověka
2020 |
First Faculty of Medicine
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