- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021 | 1. lékařská fakulta, 2. lékařská fakulta
- Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction2023 | 1. lékařská fakulta
- Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects2001 | 1. lékařská fakulta
- mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus2021 | Přírodovědecká fakulta, 1. lékařská fakulta, Ústřední knihovna, Fakulta tělesné výchovy a sportu
- Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 32016 | 1. lékařská fakulta, 2. lékařská fakulta
- OPA1 analysis in an international series of probands with bilateral optic atrophy2017 | 1. lékařská fakulta
- Adverse effects of Hif1a mutation and maternal diabetes on the offspring heart2018 | Přírodovědecká fakulta, 1. lékařská fakulta
- Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes2006 | 2. lékařská fakulta
- Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy2016 | 2. lékařská fakulta
- Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents2016 | 2. lékařská fakulta
- SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Leri-Weill dyschondrosteosis2012 | 1. lékařská fakulta
- Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN12024 | 1. lékařská fakulta
- Review: Genes Involved in Mitochondrial Physiology Within 22q11.2 Deleted Region and Their Relevance to Schizophrenia2023 | 1. lékařská fakulta, Ústřední knihovna
- Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles2021 | 1. lékařská fakulta
- Bone Geometry and Volumetric Bone Density at the Radius in Patients with Isolated SHOX Deficiency2013 | Přírodovědecká fakulta, Matematicko-fyzikální fakulta, 1. lékařská fakulta, 2. lékařská fakulta
- Childhood overgrowth in patients with common NF1 microdeletions2005 | 2. lékařská fakulta
- Defekt v SHOX genu - příčina familiárního malého vzrůstu.2010 | 1. lékařská fakulta
- SNP Array and Phenotype Correlation Shows That FLI1 Deletion Per se is Not Responsible for Thrombocytopenia Development in Jacobsen Syndrome2012 | Publikace bez příslušnosti k fakultě
- Acute lymphoblastic leukemia in a child with Leri-Weill syndrome and complete SHOX gene deletion: A Case Report2018 | 2. lékařská fakulta
- Genome-wide miRNA profiling in myelodysplastic syndrome with del(5q) treated with lenalidomide2015 | 1. lékařská fakulta
- A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion2016 | 2. lékařská fakulta
- Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome2021 | 1. lékařská fakulta
- Targeted BMI1 inhibition impairs tumor growth in lung adenocarcinomas with low CEBPα expression2016 | Ústřední knihovna
- De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome2013 | 2. lékařská fakulta
- Mutation analysis of TRPS1 gene including core promoter, 5 ' UTR, and 3 ' UTR regulatory sequences with insight into their organization2017 | Přírodovědecká fakulta, Matematicko-fyzikální fakulta, 1. lékařská fakulta
- Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions2020 | Ústřední knihovna
- An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome2019 | Matematicko-fyzikální fakulta, 1. lékařská fakulta, 2. lékařská fakulta, Lékařská fakulta v Hradci Králové
- A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia2014 | 2. lékařská fakulta
- Muscle function in Turner syndrome: normal force but decreased power2015 | Matematicko-fyzikální fakulta, 2. lékařská fakulta
- Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 42018 | 1. lékařská fakulta, 3. lékařská fakulta