about
The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndromeTM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationExpansion of the fragile X CGG repeat in females with premutation or intermediate allelesCGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1Fragile sites and human diseaseMice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cellsMutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingVariantDB: a flexible annotation and filtering portal for next generation sequencing data.Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS).Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.Fragile X syndrome at the turn of the century.Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndromeLong-term potentiation in mice lacking the neural cell adhesion molecule L1.A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.Of mice and the fragile X syndrome.FRA2A is a CGG repeat expansion associated with silencing of AFF3A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samplesGenetic modifiers in mice: the example of the fragile X mouse model.Metabonomics adds a new dimension to fragile X syndrome.The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.Craniofacial characteristics of fragile X syndrome in mouse and man.The complexity of the GABAA receptor shapes unique pharmacological profiles.Fragile X syndrome: from molecular genetics to therapy.Fragile X syndrome: from gene discovery to therapy.Advances in understanding fragile X syndrome and related disorders.Detection and interpretation of genomic structural variation in health and disease.Fragile X syndrome neurobiology translates into rational therapy.Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials.Severe mental retardation and macroorchidism without mutation in the FMR1 gene.The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders.PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum.A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.On the DNA content of Trypanosoma cruzi.
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description
hulumtues
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հետազոտող
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Frank Kooy
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Frank Kooy
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Frank Kooy
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Frank Kooy
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Frank Kooy
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Frank Kooy
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Frank Kooy
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Frank Kooy
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Frank Kooy
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