Detalhe da pesquisa
1.
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
J Clin Immunol
; 44(4): 93, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578360
2.
Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
J Hum Genet
; 62(8): 789-795, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28405014
3.
Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.
Pediatr Neurol
; 156: 147-154, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38781723