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UnknownThe heritability of beta cell function parameters in a mixed meal test design.
Not available
S-EPMC3071945 | biostudies-literature
UnknownB3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
Not available
S-EPMC5740572 | biostudies-literature
UnknownFunctional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
Not available
S-EPMC5656305 | biostudies-literature
UnknownModulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series.
Not available
S-EPMC9429545 | biostudies-literature
GenomicsDiagnostic Exome Sequencing in Persons with Severe Intellectual Disability.
Intellectual disability is a common condition that carries lifelong severe medical and developmental consequences. The causes of intellectual disability (ID) remain unknown for the majority of patients due to the extensive clinical and genetic heterogeneity of this disorder. De novo mutations may pl...
ORGANISM(S): Homo sapiens 
2013-11-06 | E-GEUV-5 | biostudies-arrayexpress
UnknownA recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Not available
S-EPMC10806738 | biostudies-literature
UnknownHomozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
Not available
S-EPMC4375531 | biostudies-literature
GenomicsEGAS00001000775-sc-20180926 - samples
DDD DATAFREEZE 2017-12-15: 13,462 trios and probands only - exome sequence VCF files
EGAD00001004389 | EGA
GenomicsEGAS00001000775-sc-20181010 - samples
DDD DATAFREEZE 2017-12-15: 13,462 trios and probands only - phenotypic and family descriptions
EGAD00001004388 | EGA
GenomicsEGAS00001000775-sc-20181009 - samples
DDD DATAFREEZE 2017-12-15: 13,462 trios and probands only - exome sequence CRAM files
EGAD00001004390 | EGA
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