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„Interferon receptor dysfunction in a child with malignant atrophic papulosis and CNS involvement“
"FOXR2 Stabilizes MYCN Protein and Identifies Non–MYCNAmplified
Neuroblastoma Patients With Unfavorable Outcome"
"Restoring light sensitivity using tunable near-infrared sensors"
"The Molecular Landscape of Embryonal Tumors with Multilayered Rosettes at Diagnosis and Relapse"
"Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy"
"Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
"Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist"
"RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome"
"A vaccine targeting mutant IDH1 induces antitumour immunity"
"Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome"
"RAD21 Mutations Cause a Human Cohesinopathy"
"Mutations in CYP24A1 and idiopathic Infantile Hypercalcemia"