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Leri-Weill dyschondrosteosis
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MUDr. Romana Mihalová
Academic staff at First Faculty of Medicine
40 publications
Publications
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
PAR1 deletion/duplication in patients with dyschondrosteosis or idiopathic short stature
Publication without faculty affiliation
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
Základy biologie a genetiky člověka
2020 |
First Faculty of Medicine
publication
CHROMOSOMAL ABERRATIONS IN ETIOLOGY OF EARLY REPRODUCTIVE FAILURE: ANALYSIS OF 233 CASES
2019 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Mutations in genes affecting fertility of men - current routine laboratory genetic diagnostics and searching for more DNA segments and genes influencing spermatogenesis
2016 |
First Faculty of Medicine
publication
Pericentric Inversion of Human Chromosome 9 Epidemiology Study in Czech Males and Females
2015 |
First Faculty of Medicine
publication
Heterochromatin variants in human karyotypes: a possible association with reproductive failure
2014 |
First Faculty of Medicine
publication
The importance of classical cytogenetic examination in clinical paediatric practice: analysis of 384 indications
2014 |
First Faculty of Medicine
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