Making headway with genetic diagnostics of intellectual disabilities.
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Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problemsX-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesA genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence.Pain in Intellectually Disabled Children: Towards Evidence-Based Pharmacotherapy?Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.Identification of C12orf4 as a gene for autosomal recessive intellectual disability.Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing.Clinical whole exome sequencing in child neurology practice.Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.
P2860
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P2860
Making headway with genetic diagnostics of intellectual disabilities.
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article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Making headway with genetic diagnostics of intellectual disabilities.
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type
label
Making headway with genetic diagnostics of intellectual disabilities.
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prefLabel
Making headway with genetic diagnostics of intellectual disabilities.
@en
P2860
P356
P1433
P1476
Making headway with genetic diagnostics of intellectual disabilities.
@en
P2093
M H Willemsen
T Kleefstra
P2860
P304
P356
10.1111/CGE.12244
P577
2013-08-26T00:00:00Z