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Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain-of-function
Download from ashpublications.orgWilms tumor in patients with osteopathia striata with cranial sclerosis
Download from www.nature.comErratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications
UploadCpG Island Hypermethylation Mediated by DNMT3A Is a Consequence of AML Progression
Download from doi.orgPrevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome
Download from jamanetwork.comThe Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications
Download from europepmc.orgDe Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies
Download from www.ncbi.nlm.nih.govTBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis
Download from www.ncbi.nlm.nih.govA 5-Month-Old Boy with Delay in Growth and Development and Decreased Muscle Tone
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