Results 101 to 110 of about 789 (158)

13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies. [PDF]

Int J Mol Sci
Efimova I, Mukhina A, Markova Z, Mordanov S, Soprunova I, Pershin D, Balinova N, Petrusenko Y, Meleshko D, Zinchenko R, Shilova N, Voronin S, Shcherbina A, Kutsev S, Marakhonov A.   +14 more
europepmc   +1 more source

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection. [PDF]

Front Immunol
Narishige Y, Nakano T, Hoshi Y, Sonota K, Sakurai H, Kakuta F, Koizumi T, Sasahara Y, Abukawa D.   +8 more
europepmc   +1 more source

Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signatures. [PDF]

Front Pediatr
Sefer AP, Yorgun Altunbas M, Erman B, Can S, Bulutoglu A, Hubrack S, Ford K, Makhlouf M, Saraiva LR, Onder G, Hatirnaz O, Usta AM, Guller D, Baser D, Akgun G, Aba U, Erdogan RK, Beser OF, Cullu Cokugras F, Demirbas Ar F, Urganci N, Dincer OS, Bilgic Eltan S, Baris S, Karakoc-Aydiner E, Lo B, Ozen A.   +26 more
europepmc   +1 more source

Sequential quantification of T-cell receptor excision circles (TRECs) and K-deleting recombination excision circles (KRECs) and overall survival after allogeneic HSCT. [PDF]

Bone Marrow Transplant
de Miguel C, Briansó F, Alonso R, Bautista G, Espinosa L, Manchado-Perdiguero C, Martínez-Muñoz ME, Núñez L, Salcedo I, Sánchez-Peral A, Duarte RF.   +10 more
europepmc   +1 more source

Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort. [PDF]

J Clin Lab Anal
Marakhonov A, Kalinina E, Larin S, Khadzhieva M, Dudina E, Mukhina A, Rodina Y, Efimova I, Balinova N, Sermyagina I, Shchagina O, Zinchenko R, Voronin S, Shcherbina A, Kutsev S.   +14 more
europepmc   +1 more source

Immunological biomarkers at birth and later risk of celiac disease. [PDF]

BMC Gastroenterol
Ulnes M, Lundbäck V, Lindgren S, Molin M, Zetterström RH, Ekwall O, Mårild K.   +6 more
europepmc   +1 more source

TREC，KREC

Japanese Journal of Allergology
openaire   +1 more source

Two case reports of B-cell lymphopenia associated with <i>IGLL1</i> variants identified through newborn screening in Ukraine. [PDF]

Front Pediatr
Boyarchuk O, Romanyshyn Y, Savchak I, Kravets V, Shymanska I, Makukh H.   +5 more
europepmc   +1 more source

Thymic output in human newborns is shaped by environmental exposures and a common TCRD genetic variant. [PDF]

J Hum Immun
Tan Z, Kergaravat C, Gonzalez L, Johnsson A, Negrini E, Pou C, Bernhardsson AK, Barcenilla H, Ivanchenko M, Chen Y, Henckel E, Lakshmikanth T, Mikeš J, James A, Cieslak A, Asnafi V, Desponds J, Fontes M, Irla M, Milieu Interieur Consortium, Duffy D, Patin E, Quintana-Murci L, Clave E, Toubert A, Brodin P.   +25 more
europepmc   +1 more source

Two-step coupled photoelectrochemical chlorination and oxygenation of C(sp³)-H bonds mediated by chlorine radicals over a modified BiVO₄ photoanode. [PDF]

Chem Sci
Yang W, Li P, Han Y, Zhao Z, Tian L, Zhang Z, Humphrey MG, Zhang C, Hu K.   +8 more
europepmc   +1 more source