Results 81 to 90 of about 8,652 (161)

Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death

open access: yesThe Journal of Clinical Investigation
Suppressor of lin-12-like–HMG-CoA reductase degradation 1 (SEL1L-HRD1) ER-associated degradation (ERAD) plays a critical role in many physiological processes in mice, including immunity, water homeostasis, and energy metabolism; however, its relevance ...
Denisa Weis   +18 more
doaj   +1 more source

Investigating serum free light chains in patients with common variable immunodeficiency disorder in compare with other immunodeficiency diseases. [PDF]

open access: yesSci Rep
Bemanian MH   +12 more
europepmc   +1 more source

Bruton's Agammaglobulinemia: Case Series and Literature Review From King Fahad Central Hospital, Jizan, Saudi Arabia. [PDF]

open access: yesAm J Case Rep
Shamakhi A   +7 more
europepmc   +1 more source

Clinical relevant Bruton's X-linked tyrosine kinase deficiency in a female with extreme X-chromosome inactivation. [PDF]

open access: yesAllergy Asthma Clin Immunol
NoorSaeed SM   +4 more
europepmc   +1 more source

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