Medical Technology

Current search: diagnosis primaryimmunodeficiency

@Primary_Immune 3 years ago

🧬 A never-before-seen #PrimaryImmunodeficiency mutation enters medical literature ...an elusive diagnosis for a sick Turkish girl https://link.springer.com/article/10.1007/s10875-020-00889-1 #openscience #technology #bigdata #bioinformatics #itrtg #immunology #genomics #raredisease https://t.co/xkuZBhmUtI

@Primary_Immune 3 years ago

. An elusive genomic diagnosis for two very sick kids ...as a newly-identified #PrimaryImmunodeficiency disorder enters medical literature https://rupress.org/jem/article/217/12/e20192275/152004/NCKAP1L-defects-lead-to-a-novel-syndrome-combining?searchresult=1 #iot #rstats #snrtg #autoimmune #technology #datascience #immunology #genomics #raredisease https://t.co/p4GG22aAMJ

@Primary_Immune 3 years ago

there are ...more than 4⃣3⃣0⃣ distinct #PrimaryImmunodeficiency disorders in medical literature -most affect children ...a new case study brings a rare diagnosis https://assets.researchsquare.com/files/rs-33775/v1/f6ef90c9-9876-4db2-ba9a-6892c61df06e.pdf #iot #snrtg #WomenInSTEM #openscience #bigdata #technology #immunology #genomics #raredisease https://t.co/MecE6GWBLy

@Primary_Immune 4 years ago

A Rare #PrimaryImmunodeficiency Diagnosis Captured in a Compelling Case-Report, Worthy of a Medical Textbook https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/s12881-019-0837-4 #SciComm #BigData #bioinformatics #technology #MedEd #SNRTG #genomics #immunology #exome #RareDisease @BioMedCentral @OAgenetics @BMC_series https://t.co/WV4M50ZnhB