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UnknownA variant in <i>IL6ST</i> with a selective IL-11 signaling defect in human and mouse.
Not available
S-EPMC7289831 | biostudies-literature
UnknownPrevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Not available
S-EPMC3535761 | biostudies-literature
UnknownApparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.
Not available
S-EPMC4236556 | biostudies-literature
UnknownOCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia.
Not available
S-EPMC3210831 | biostudies-literature
UnknownDe novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Not available
S-EPMC4215269 | biostudies-literature
UnknownGenomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Not available
S-EPMC384921 | biostudies-literature
UnknownGain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
Not available
S-EPMC4564895 | biostudies-literature
UnknownElderly Medication Adherence Intervention Using the My Interventional Drug-Eluting Stent Educational App: Multisite Randomized Feasibility Trial.
Not available
S-EPMC7381043 | biostudies-literature
UnknownTargeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.
Not available
S-EPMC9141801 | biostudies-literature
UnknownNext-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Not available
S-EPMC3573204 | biostudies-literature
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