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UnknownNovel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Not available
S-EPMC8359977 | biostudies-literature
UnknownMolecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.
Not available
S-EPMC5839021 | biostudies-literature
UnknownTownes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.
Not available
S-EPMC12583617 | biostudies-literature
UnknownThe Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
Not available
S-EPMC12674979 | biostudies-literature
UnknownDeletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Not available
S-EPMC11511899 | biostudies-literature
UnknownGain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Not available
S-EPMC9169635 | biostudies-literature
UnknownMYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Not available
S-EPMC10400741 | biostudies-literature
UnknownA metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Not available
S-EPMC10866660 | biostudies-literature
UnknownDe novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Not available
S-EPMC9385150 | biostudies-literature
UnknownHighlighting the Dystonic Phenotype Related to GNAO1.
Not available
S-EPMC9545634 | biostudies-literature
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