Results 181 to 190 of about 45,012 (247)

Newborn screening for severe combined immunodeficiency (SCID): a review.

Frontiers in Bioscience, 2005
Hai Huang, K. Manton
semanticscholar   +1 more source

Double-hit RAG2 mutation presenting with hyper-immunoglobulin E and preserved T cells diagnostic challenge: a case report. [PDF]

J Med Case Rep
Hasan FM, Hamdan MH, Ismail AM, Malhis DL, Yadak DG, Warrad RK, Udwan SK, Sabbah YM.   +7 more
europepmc   +1 more source

Generation of Knockout Rats with X-Linked Severe Combined Immunodeficiency (X-SCID) Using Zinc-Finger Nucleases

, 2010
Tomoji Mashimo, Akiko Takizawa, Birger Voigt, Kazuto Yoshimi, Hiroshi Hiai, Takashi Kuramoto, Tadao Serikawa   +6 more
openalex   +2 more sources

A novel <i>de novo IL2RG</i> nonsense mutation in a pediatric patient with X-linked severe combined immunodeficiency. [PDF]

Front Genet
Wang L, Ren A, He Y, Wang L, Wang S, Xie X, Tan M, Chen Y, Huang P, Du Z.   +9 more
europepmc   +1 more source

Targeted Next-Generation Sequencing in the Molecular Diagnosis of Severe Combined Immunodeficiency. [PDF]

Medicina (Kaunas)
Bakaros E, Sarrou S, Gkantaras A, Matziri A, Galanopoulos AP, Charisi K, Bangeas A, Taparkou A, Papadimitriou E, Mouchtouri VA, Kalala F, Hadjichristodoulou C, Speletas M, Farmaki E.   +13 more
europepmc   +1 more source

270 B cell function in severe combined immunodeficiency (SCID) Following HLA-identical and haploidentical marrow transplantation

, 1988
R.H. Buckley, Sherrie E. Schiff, Roderick L. Johnson, Sandra H. Bigner, Hans D. Ochs   +4 more
openalex   +1 more source

The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency. [PDF]

Int J Neonatal Screen
Bettiol A, Damiano R, Mytsyk N, Samonenko N, Cericola G, Speckmann C, Olkhovich N, Guerrini R, la Marca G.   +8 more
europepmc   +1 more source

Current status of BCG and OPV vaccination in children with primary immunodeficiency in Chongqing, China. [PDF]

Medicine (Baltimore)
Liu Y, Zhang Y, Ning Y, Zhang Z, Wang Q, Xie W, Yang H, Chen L, Zhao H, Xu J.   +9 more
europepmc   +1 more source

Validation on the First-Tier Fully Automated High-Throughput <i>SMN1</i>, <i>SMN2</i>, TREC, and <i>RPP30</i> Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency. [PDF]

Int J Neonatal Screen
Mak CM, Ho TYC, Yip MK, Song FE, Tam RCM, Yu LWY, Ke AA, Law ECY, Chan TCH, Yeung MCW.   +9 more
europepmc   +1 more source

Investigation of severe combined immunodeficiency (SCID) disease of Arabian horses raised at the state stud farms in Turkey

, 2014
Bengi Çınar Kul, Bengi Bengi, Özgecan ERTUĞRUL, Murat Durmaz, Murat Murat   +4 more
openalex   +2 more sources