Results 201 to 210 of about 45,777 (283)

Implementation Timeframes for the Addition of New Conditions to Newborn Bloodspot Screening Programmes: A Scoping Review. [PDF]

Int J Neonatal Screen
Brennan MM, O'Connell A, O'Grady L, Elsammak M, Brady JJ, Marsden P, Burns H, Collins A.   +7 more
europepmc   +1 more source

Lymphedema in patients with X-linked severe combined immunodeficiency. [PDF]

J Allergy Clin Immunol Glob
Consonni F, De Ravin SS, Vignes S, Courteille V, Cavazzana M, Berteloot L, Fischer A, Neven B.   +7 more
europepmc   +1 more source

Mapping the landscape of autoimmunity and autoinflammation in inborn errors of immunity: broad distribution with distinct clustering patterns. [PDF]

Front Immunol
Tahiat A, Touri S, Saad-Djaballah A, Hakem S, Fernini F, Aggoune S, Belhadj H, Bendahmane C, Mokrane L, Bencharif Madani T, Benhacine Z, Melzi S, Aboura R, Messaoudi H, Boudiaf H, Ladj MS, Khelifi Touhami T, Taibi L, Zobiri S, Bouhdjila R, Bouzerar Z, Ibsaine O, Kedji L, Yagoubi A, Belbouab R, Boukari R, Smati L, Rosenzweig SD, Bogunovic D, Notarangelo LD, Djenouhat K.   +30 more
europepmc   +1 more source

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

Severe combined immunodeficiency (SCID) in the mouse. Pathology, reconstitution, neoplasms.

, 1985
R P Custer, Gayle C. Bosma, Melvin J. Bosma   +2 more
openalex   +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

Combined Immunodeficiency Associated with Two Novel CARMIL2 Mutations: A Case Series. [PDF]

J Clin Immunol
Ghannam SIA, Andonie CR, Hamadna TM, Abu-Hilal LH, Adwan RS.   +4 more
europepmc   +1 more source

Identification of Heterozygous Single- and Multi-exon Deletions in by Whole Exome Sequencing [PDF]

core   +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

Ex Vivo Gene and Cell Therapy in Hematopoietic Stem Cells. [PDF]

Int J Mol Sci
Petrova IO, Smirnikhina SA.
europepmc   +1 more source