Genetic Diagnosis and Identification of a Novel De Novo RELA Variant in Familial Behçet-like Autoinflammatory Syndrome Type 3: A Case Report. [PDF]
Zhang T +5 more
europepmc +1 more source
A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood. [PDF]
Kumar V +2 more
europepmc +1 more source
Exploring a cherubism bone phenotype outside the craniofacial region. [PDF]
Morice A +10 more
europepmc +1 more source
Case Report: TRNT1 related autoinflammatory syndrome in a patient with primary ciliary dyskinesia. [PDF]
Di Gennaro S +6 more
europepmc +1 more source
The use of JAK inhibitors and tocilizumab in the management of TRAPS: a sibling case study. [PDF]
Thai D +6 more
europepmc +1 more source
[The Cutting-edge of Medicine: Hereditary autoinflammatory diseases: diagnosis and management].
Kiyoshi, Migita +2 more
openaire +1 more source
The Silent Infection: Cytokine Blockade, Blunted Sepsis Physiology, and Soft Tissue Infection With NLRP12-Associated Autoinflammatory Syndrome. [PDF]
Izadian Bidgoli A, Gomez Veliz A.
europepmc +1 more source
Depression and sleep disturbances in children and adolescents with familial Mediterranean fever: a prospective case-control study. [PDF]
Doğantan Ş +3 more
europepmc +1 more source
Not getting the nod: The case against Yao syndrome. [PDF]
Gray PE, Masters SL, Kirk EP.
europepmc +1 more source

