Results 131 to 138 of about 22,061 (138)

[Carriers of pathogenic variants in inborn errors of immunity: genetic associations with disease].

Zhonghua er ke za zhi = Chinese journal of pediatrics
J, Zhao, X Q, Wei, X D, Zhao, Y F, An
openaire   +1 more source

Disparities in Genetic Testing for Inborn Errors of Immunity

Journal of Allergy and Clinical Immunology: in Practice
Karen M Gilbert, Jocelyn R Farmer, Mei-Sing Ong   +2 more
exaly  

Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment

Cell
Chris J Frangieh, Benjamin Izar
exaly  

Association of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity

Clinical Immunology
Florence Ida Hsu, Gary Soffer
exaly  

18 Tracking Uncertainty in Germline Genetic Testing for Inborn Errors of Immunity: Sources, Attributes, and Resolution of Variants of Uncertain Significance in Over 44,000 Individuals

Clinical Immunology
Elaine Chen, Kathryn E Hatchell, Sienna Aguilar   +2 more
exaly  

Genetic Counseling in Pediatric Inborn Errors of Immunity: Perspective Piece on Current Practice and Considerations

Journal of Allergy and Clinical Immunology: in Practice
Aideen M Mcinerney-Leo, Rebecca Macintosh, Tatiane Yanes   +2 more
exaly  

Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing

Scientific Reports
Mihaela Bataneant, Bogdan Drăgulescu, Adela Chirita-Emandi   +2 more
exaly  

Molecular Methods for Genetic Diagnosis of Inborn Errors of Immunity

Sarah L Anzick, Amy P Hsu
exaly