688 search results for “genetic syndromes” in the Public website
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Genetic syndromes
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Genetic risk & atypical development: 22q11 Syndrome
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Self-management training in adolescents and adults with Klinefelter syndrome (XXY)
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indicators of social cognition and emotion in adults with Klinefelter syndrome
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Neurofibromatosis Type I
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Kimberly Kuiper
Faculteit der Sociale Wetenschappen
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Language and self-regulation in XXY
The role of language in self-regulation and social behavior in children with an extra X chromosome
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Local Knowledge Syndrome
Local Knowledge Syndrome and Donor-Promoted Public Sector Reforms in Developing Countries. Effective development often fails because relief organizations don't study the local knowlegde and problems, says Moosa Elayah. A Local Bank of Knowledge can be the answer.
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Alice in Wonderland-syndrome
FSW Professor Jan Dirk Blom has written a book on Alice in Wonderland syndrome. This is the first scientific book on this rare disorder, which was first described in 1955 by the British psychiatrist John Todd. Todd was inspired by the famous book by Lewis Carroll, in which Alice experiences all kinds…
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XXY versus autism: evidence from neuroimaging
Brain development in children with an extra X chromosome as compared to children with autism: evidence from MRI
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S.C.J. Huijbregts
Faculteit der Sociale Wetenschappen
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Nienke Bouw
Faculteit der Sociale Wetenschappen
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Intercellular Skin Barrier Lipid Composition and Organization in Netherton Syndrome Patients
Netherton Syndrome (NTS) is a rare genetic skin disease caused by mutations in the serine protease inhibitor Kazal-type 5 gene, which encodes the lympho-epithelial Kazal-type-related inhibitor. NTS patients have a profound impaired skin barrier function. Because SC lipids play a crucial role in the…
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Neurodevelopmental risks in young children with an extra X or Y chromosome
This longitudinal study is focused on neurodevelopmental problems in young children with XXY, XXX and XYY, aged 1 to 6 years.
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Molecular Genetics and Biotechnology (MSc)
In the master’s specialisation Molecular Genetics and Biotechnology at Leiden University students are trained by experts in the areas of molecular biology, microbiology, plant genetics, cellular imaging, animal disease models, and various –omics technologies and the corresponding bioinformatics.
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Extremely shy and genetically close
Investigating neurobiological endophenotypes of Social Anxiety Disorder
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Chemical genetic approaches for target validation
Drug development is a time- and resource-consuming process that starts with the discovery and validation of a (protein) target that contributes to pathogenesis or disease progression.
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Dedicated genetics and compound libraries
This page is under construction.
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Noonan and LEOPARD syndrome in zebrafish: molecular mechanisms and cardiac development
Promotor: Prof.dr. J. den Hertog
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Fire use in human evolution: A genetic approach
Are traces of fire use detectable in ancient hominin genomes?
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Contact in the Prehistory of the Sakha (Yakuts): Linguistic and Genetic Perspectives
This study analyses the prehistory of a northeastern Siberian population, the Sakha, from both a molecular-genetic and a linguistic perspective.
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The complicated conservation problem of genetic pollution
How does invasive hybridization affect threatened native species?
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Genetic diversity in the lion (Panthera leo (Linnaeus 1758)): unravelling the past and prospects for the future
Promotor: Prof.dr. G.R. de Snoo
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Genetic, biochemical and neural correlates of vulnerability to depression.
How do genetic and environmental factors make us vulnerable to depression?
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Research
Research in the group Clinical Neurodevelopmental Studies is focused on understanding and influencing developmental mechanisms in children and adolescents, in particular the development of psychopathology, ranging from mild to severe neurodevelopmental disorders.
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Temperature effects on genetic and physiological regulation of adaptive plasticity
Promotor: P.M. Brakefield
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Triple bottom line approach for risk-benefit analysis of genetically modified crops
Description of Triple bottom line approach for risk-benefit analysis of genetically modified crops.
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The mechanical genome : inquiries into the mechanical function of genetic information
The four possible segments A, T, C and G that link together to form DNA molecules, and with their ordering encode genetic information, are not only different in name, but also in their physical and chemical properties.
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educational interventions with computer programmes: the influence of genetic and neurobiological factors
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Discovery of genetic defects in unexplained colorectal cancer syndromes
PhD Defence
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Comparative ecology and genetics of sympatric wild cats in relation to human wildlife conflict in Bardia National Park, Nepal
What is the population size/structure and distribution of tiger and leopard inside the Bardia National Park (BNP) compared with the population outside? What is the movement and home range and conflict pattern in time and space of tigers and leopards inside the BNP compared with outside? What constitutes…
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Sophie van Rijn
Faculteit der Sociale Wetenschappen
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Jan Dirk Blom
Faculteit der Sociale Wetenschappen
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Fatemeh Tabassi Mofrad
Faculteit der Sociale Wetenschappen
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Niki Antypa
Faculteit der Sociale Wetenschappen
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Scientists find strong evidence that wasting syndrome is the same for all organisms
An interdisciplinary team of Leiden researchers has discovered that wasting syndrome, a severe byproduct of tuberculosis, is the same for all humans and animals studied. The discovery offers new opportunities to investigate the still insufficiently understood condition. The scientists also developed…
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Dorien Peters
Faculteit Geneeskunde
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Diversity in the globally intertwined giant barrel sponge species complex
This thesis describes the genetic and prokaryotic diversity of giant barrel sponges.
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The Role of Linker DNA in Chromatin Fibers
The genetic information of all living organisms is contained in their DNA. Cells modify the degree of DNA compaction by epigenetics, which largely determines what genes are read out and which genes are transcriptionally silent.
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First clinical trial with genetically modified malaria vaccine completed
In an innovative study, Radboudumc and LUMC jointly tested a candidate vaccine based on a genetically weakened malaria parasite. The results of this clinical trial, published in Science Translational Medicine, show that the vaccine is safe and elicits a defense response against a malaria infection.
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Genetic predisposition to social anxiety disorder measurable in the brain
It was already known that social anxiety disorder often affects more than one person in the same family. But research by PhD student Janna Marie Bas-Hoogendam has now shown that there are genetic brain characteristics that are associated with social anxiety. The PhD ceremony will take place on 14 Ja…
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Startup brings new genetic knowledge to companies
On 29 June the startup company Future Genomics Technologies will be launched. Its aim is to make DNA technology and research available for businesses faster. Future Genomics Technologies is a collaboration between DNA research laboratory BaseClear and Leiden University.
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Break-through in the genetic modification of plants
A collaboration between the IBL and LUMC has resulted in the discovery that the polymerase theta enzyme is essential for the integration of Agrobacterium T-DNA into the genome of plants. The finding means a break-through for the development of more efficient systems for targeted genome modification…
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Wouter Staal
Faculteit der Sociale Wetenschappen
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MYC transcription factors: masters in the regulation of jasmonate biosynthesis in Arabidopsis thaliana
Promotor: J.M. Memelink
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Patterns of coral species richness and reef connectivity in Malaysia
Promotor: E. Gittenberger, Co-promotor: B.W. Hoeksema
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Preclinical validation of putative targets in cardiovascular and metabolic disease
Cardiovascular disease is the number one cause of death worldwide. The most important risk factor for developing this disease is high cholesterol levels in the blood.
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Precision modeling of breast cancer in the CRISPR era
The molecular mechanisms that instigate a healthy cell to become malignant are fueled by (epi)genetic alterations in so-called driver genes.
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The mechanism of Agrobacterium-mediated transformation of eukaryotic cells
We aim to unravel the molecular mechanisms involved in the transformation of eukaryotic cells by Agrobacterium.
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Resistance to PARP inhibition by DNA damage response alterations in BRCA1/2-deficient tumors
Inactivating mutations in BRCA1 or BRCA2 genes predispose to several types of cancer.