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Gene deletion
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Generation of mRx-Cre Transgenic Mouse Line for Efficient Conditional Gene Deletion in Early Retinal Progenitors
2013 |
Faculty of Science
publication
Acute lymphoblastic leukemia in a child with Leri-Weill syndrome and complete SHOX gene deletion: A Case Report
2018 |
Second Faculty of Medicine
publication
Significance of real-time quantitative polymerase chain reaction detection of p16 gene deletions in childhood acute lymphoblastic leukemia
2002 |
Second Faculty of Medicine
publication
A 3-bp Deletion VK600-1E in the BRAF Gene Detected in a Young Woman with Papillary Thyroid Carcinoma
2015 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Insulin resistance in the liver-specific IGF- gene-deleted mouse is abrogated by deletion of the acid-labile subunit of the IGF-binding protein-3 complex: relative roles of growth hormone and IGF-1 in insulin resistance
2003 |
First Faculty of Medicine
publication
Insulin resistance in the liver-specific IGF- gene-deleted mouse is abrogated by deletion of the acid-labile subunit of the IGF-binding protein-3 complex: relative roles of growth hormone and IGF-1 in insulin resistance
2003 |
Faculty of Physical Education and Sport
publication
Two novel Bartonella (sub)species isolated from edible dormice (Glis glis): Hints of cultivation stress-induced genomic changes
2023 |
Faculty of Science, First Faculty of Medicine, Central Library of Charles University
publication
Epoxyeicosatrienoic acid analog EET-B attenuates post-myocardial infarction remodeling in spontaneously hypertensive rats
2019 |
First Faculty of Medicine, Central Library of Charles University
publication
Natural history of multiple myeloma with de novo del(17p)
2019 |
Faculty of Medicine in Hradec Králové
publication
CARM1 is required for proper control of proliferation and differentiation of pulmonary epithelial cells
2010 |
Central Library of Charles University
publication
Xp21 microdeletion syndrome: Severe cause of adrenal insufficiency, muscular dystrophy, plasma lipid disorder and developmental delay in a two-month-old child with failure to thrive
2012 |
Second Faculty of Medicine
publication
Systematic functional analysis of Leishmania protein kinases identifies regulators of differentiation or survival
2021 |
Faculty of Science
publication
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
2005 |
Third Faculty of Medicine
publication
Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the Nme7 Gene
2021 |
First Faculty of Medicine
publication
Expression of lamin C2 in mammalian oocytes
2020 |
Central Library of Charles University
publication
The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to HNF1 beta Mutations
2020 |
First Faculty of Medicine
publication
A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes
2021 |
Second Faculty of Medicine
publication
Erg6 gene is essential for stress adaptation in Kluyveromyces lactis
2018 |
Faculty of Mathematics and Physics
publication
Development of a rapid method for site-directed mutagenesis in Streptococcus zooepidemicus
2020 |
First Faculty of Medicine
publication
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
2023 |
First Faculty of Medicine
publication
Nucleosome Positioning by an Evolutionarily Conserved Chromatin Remodeler Prevents Aberrant DNA Methylation in Neurospora
2019 |
Faculty of Science
publication
Genetic findings in Czech patients with limb girdle muscular dystrophy
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Wnt Effector TCF4 Is Dispensable for Wnt Signaling in Human Cancer Cells
2018 |
Faculty of Science, Central Library of Charles University
publication
Localized mosaic neurofibromatosis type 1
2022 |
Second Faculty of Medicine
publication
Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing
2020 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3
2016 |
First Faculty of Medicine, Second Faculty of Medicine
publication
CRISPR/Cas9-Mediated Correction of the FANCD1 Gene in Primary Patient Cells
2017 |
Second Faculty of Medicine
publication
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
2010 |
Second Faculty of Medicine
publication
Germline SUCLG2 Variants in Patients With Pheochromocytoma and Paraganglioma
2022 |
Faculty of Science, Central Library of Charles University
publication
Colonization and genetic diversification processes of Leishmania infantum in the Americas
2021 |
Faculty of Science