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T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects
UploadATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
Download from api.wiley.comT‐cell receptor repertoire data provides new evidence for hygiene hypothesis of allergic diseases
Download from onlinelibrary.wiley.comMolecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
Download from www.nature.comSMYD1 is the underlying gene for the AnWj-negative blood group phenotype
UploadA rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism
Download from doi.orgHomozygousGNALmutation associated with familial childhood-onset generalized dystonia
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