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Female heterozygotes
Publication
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Person
Publication
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publication
Post-mortem Diagnosis of Fabry s Disease in a Female Heterozygote Leading to the Recognition of Undiagnosed Manifest Disease in the Family.
1999 |
Faculty of Physical Education and Sport
publication
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities
2016 |
First Faculty of Medicine
publication
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
2018 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
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, Second Faculty of Medicine, Central Library of Charles University
publication
Cytogenetic analysis of translocations induced by the chemical mutagen thio TEPA in spermatids of male mice
1981 |
Second Faculty of Medicine
publication
Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
2012 |
First Faculty of Medicine
publication
Review dental treatment of patients with congenital bleeding disorders
2014 |
Second Faculty of Medicine
publication
Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
2012 |
Second Faculty of Medicine