Results 161 to 170 of about 4,169 (220)

Case Report: Novel variants in the <i>MYD88</i> gene (c.104T>C, c.141G>C) in a patient with recurrent abscesses as a cause of type 68 immunodeficiency. [PDF]

open access: yesFront Immunol
Buianova AA   +7 more
europepmc   +1 more source

Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant. [PDF]

open access: yesFront Immunol
Beppu S   +15 more
europepmc   +1 more source

Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years. [PDF]

open access: yesGenes (Basel)
Kimizu T   +16 more
europepmc   +1 more source

Determination of TREC and KREC reference intervals for immunodeficiency newborn screening in the Russian Federation

open access: green, 2019
Maria A. Gordukova   +6 more
openalex   +1 more source

Translational minimal physiologically based pharmacokinetic model for transferrin receptor-mediated brain delivery of antibodies. [PDF]

open access: yesMAbs
Muliaditan M   +9 more
europepmc   +1 more source

Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study. [PDF]

open access: yesInt J Neonatal Screen
De Felipe B   +16 more
europepmc   +1 more source

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