This streamlined new edition covers the latest on genetics, neurology, infectious disease, melamine poisoning, sexual identity and adolescent homosexuality, psychosis associated with epilepsy, and more. [books.google.com]

[…] childhood absence, susceptibility to, 5}, 612269 (3) GABRD 137163 {Epilepsy, idiopathic generalized, 10}, 613060 (3) GABRD 137163 {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3) GABRD 137163 {Generalized epilepsy with febrile seizures plus [usegalaxy.org]

Nascent transduced mutant CD3zeta protein was also not detected in metabolically labeled MA5.8 cells, suggesting that it was unstable and rapidly degraded. [ncbi.nlm.nih.gov]

Furthermore, after its phosphorylation and T-cell activation, ζ-chain is ubiquitylated and degraded, a fact suggesting that its level on T-cell surface is also under control and contribute to the regulation of an initiated immune response. [ingentaconnect.com]

This molecular defect results in absent T-cell and NK-cell maturation, although evidence suggests that the γ chain is also involved in B-cell development. [emedicine.medscape.com]

Both types of conditions result in self-directed inflammation in the absence of a known trigger, and recent studies suggest considerable overlap in molecular pathways involved in both groups of conditions (PMID: 29099860). [invitae.com]

Meticulously updated, this exciting full-color set brings together the pathophysiology of disease with detailed clinical guidance to provide you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children. [books.google.com]

Difficulties 611943 Genetic Test Registry Sarcoidosis, Early-Onset Eos 609464 Genetic Test Registry Schimke Immunoosseous Dysplasia Immunoosseous Dysplasia, Schimke Type SIOD 242900 Genetic Test Registry Schimmelpenning-Feuerstein-Mims Syndrome Epidermal [ukgtn.nhs.uk]