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1
Upregulation of adenosine A2A receptor in astrocytes is sufficient to trigger hippocampal multicellular dysfunctions and memory deficits
Enthalten in Molecular psychiatry 23.7.2025: 1-15
2
Targeting the brain 5-HT7 receptor to prevent hypomyelination in a rodent model of perinatal white matter injuries
Enthalten in Journal of neural transmission 6.11.2022: 1-17
3
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Enthalten in Genetics in medicine 5.11.2020: 1-12
4
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
Enthalten in Genetics in medicine 27.10.2020: 1-11
5
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
Enthalten in Human genetics 12.5.2020: 1-10
6
The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals
Enthalten in The cerebellum 30.1.2020: 1-12
7
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests
Enthalten in European journal of human genetics 24.4.2019: 1-18
8
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia
Enthalten in Journal of molecular medicine 7.3.2019: 1-13
9
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
Enthalten in Genetics in medicine 6.2.2019: 1-11
10
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
Enthalten in European journal of human genetics 1.2.2019: 1-10
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