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Search for publications relevant for "homozygous"
homozygous
Publication
Class
Person
Publication
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publication
Hypolipidemic therapy in pregnant women with homozygous familial hypercholesterolemia
2022 |
Faculty of Medicine in Hradec Králové
publication
Pregnancy in homozygous familial hypercholesterolemia - Importance of LDL-apheresis
2015 |
Faculty of Medicine in Hradec Králové
publication
Pregnancy in homozygous familial hypercholesterolemia-A case series
2022 |
Faculty of Medicine in Hradec Králové
publication
The Homozygous Type II Antithrombin Deficient Pregnant Woman Monitored by Thrombin Generation Assay
2023 |
First Faculty of Medicine
publication
Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia
2019 |
Faculty of Science
publication
Thrombin Generation Decrease After LMWH Administration in an Antithrombin-Deficient Pregnant Woman With a Homozygous HBS II Mutation
2023 |
First Faculty of Medicine
publication
Distribution of KIR genes in the population of unrelated individuals homozygous for ancestral haplotype AH8.1 (HLA-A1B8DR3)
2010 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, Central Library of Charles University
publication
Late-onset endothelin-A receptor blockade reduces podocyte injury in homozygous ren-2 rats despite severe hypertension
2006 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Effect of long-term feeding cholesterol diet on cholesterol concentration and development of atherosclerosis in homozygous apolipoprotein E-deficient mice
2005 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
New treatment possibilities of homozygous familial hypercholesterolemia
2023 |
Faculty of Medicine in Hradec Králové
publication
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia
2011 |
First Faculty of Medicine
publication
Homozygous form of porphyria variegata in childhood
Publication without faculty affiliation
publication
The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome
2006 |
Publication without faculty affiliation
publication
A novel case of homozygous IFNAR1 deficiency with haemophagocytic lymphohistiocytosis
2022 |
Second Faculty of Medicine
publication
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant
2021 |
Second Faculty of Medicine
publication
Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients
2005 |
First Faculty of Medicine
publication
Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients
2005 |
Faculty of Physical Education and Sport
publication
Blockade of endothelin Receptors Attenuates End-Organ Damage in Homozygous Hypertensive Ren-2 Transgenic Rats
2004 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
publication
Risk of thrombosis in patients homozygous and heterozygous for factor V Leiden in the East Bohemian region
Publication without faculty affiliation
publication
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR
2015 |
Second Faculty of Medicine
publication
Occurrence of venous thromboembolism in persons with F V Leiden in homozygous form
Publication without faculty affiliation
publication
Spermatogenesis affliction in rat males homozygous in hypodactylous mutation
Publication without faculty affiliation
publication
Risk of thrombosis in patients homozygous for F V Leiden in the east Bohemian region
Publication without faculty affiliation
publication
Familial defective apolipoprotein B 100: a lesson from homozygous and heterozygous patients
2000 |
First Faculty of Medicine
publication
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings
2021 |
Faculty of Science
publication
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
2009 |
Second Faculty of Medicine
publication
Polypoid atypical spitz tumor with a fibrosclerotic stroma, CLIP2-BRAF fusion, and homozygous loss of 9p21
2020 |
Faculty of Medicine in Pilsen, Second Faculty of Medicine
publication
Impairment of Sox9 Expression in Limb Buds of Rats Homozygous for Hypodactyly Mutation
2010 |
First Faculty of Medicine
publication
Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy
2015 |
First Faculty of Medicine, Central Library of Charles University
publication
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia
2020 |
First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine, Faculty of Science