Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
about
Detailed analysis of 22q11.2 with a high density MLPA probe setPractical guidelines for managing patients with 22q11.2 deletion syndromePrevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnanciesA French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGHDeficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduriaChimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiencyDysregulation of presynaptic calcium and synaptic plasticity in a mouse model of 22q11 deletion syndrome.The Danish 22q11 research initiativeBridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.Evidence for involvement of GNB1L in autism.Proline and COMT status affect visual connectivity in children with 22q11.2 deletion syndrome.Velo-cardio-facial syndrome: 30 Years of study.Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophreniaSearch for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorderPrevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.The importance of understanding cognitive trajectories: the case of 22q11.2 deletion syndrome.Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our timesThe development of cognitive control in children with chromosome 22q11.2 deletion syndromeExamining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.A Synaptic Function Approach to Investigating Complex Psychiatric Diseases.Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases.Prodromal symptoms in adolescents with 22q11.2 deletion syndrome and schizotypal personality disorder.Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.Increased incidence and size of cavum septum pellucidum in children with chromosome 22q11.2 deletion syndrome.DiGeorge Syndrome: a not so rare disease.De novo rates and selection of large copy number variation.miRNA-940 reduction contributes to human Tetralogy of Fallot development.Temporal lobe pleomorphic xanthoastrocytoma and acquired BRAF mutation in an adolescent with the constitutional 22q11.2 deletion syndrome.DiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart looping and differentiationMapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCRAtypical development of the executive attention network in children with chromosome 22q11.2 deletion syndromeClinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three familiesWhite matter microstructure in 22q11 deletion syndrome: a pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents.An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndromeRare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in EuropeA cross-sectional study of the development of volitional control of spatial attention in children with chromosome 22q11.2 deletion syndromeTargeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplicationsAge-dependent microRNA control of synaptic plasticity in 22q11 deletion syndrome and schizophrenia.The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder
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P2860
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
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2004 nî lūn-bûn
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2004 թուականի Փետրուարին հրատարակուած գիտական յօդուած
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2004 թվականի փետրվարին հրատարակված գիտական հոդված
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2004年の論文
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2004年論文
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2004年論文
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2004年論文
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2004年論文
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2004年論文
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2004年论文
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name
Incidence and prevalence of th ...... -based study in Western Sweden
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Incidence and prevalence of th ...... -based study in Western Sweden
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Incidence and prevalence of th ...... -based study in Western Sweden
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Incidence and prevalence of th ...... -based study in Western Sweden
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Incidence and prevalence of th ...... -based study in Western Sweden
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Incidence and prevalence of th ...... -based study in Western Sweden
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Incidence and prevalence of th ...... -based study in Western Sweden
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Incidence and prevalence of th ...... -based study in Western Sweden
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Incidence and prevalence of th ...... -based study in Western Sweden
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P2093
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Incidence and prevalence of th ...... -based study in Western Sweden
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10.1136/ADC.2003.026880
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2004-02-01T00:00:00Z