Results 161 to 170 of about 215,208 (174)

Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma. [PDF]

PLoS One
Pomares AA, Merino LR, González S, Morata J, Tonda R, Arribas P, Revert J, Carrillo E, Grande C, Roncero JM, de Oteyza JP, Nicolás C, Gutierrez N, Abrisqueta P, Gutiérrez A, Ramírez-Páyer Á, Garcia-Sancho AM, González-Barca E, Montes-Moreno S, GELTAMO group (Grupo Español de Linfomas y Trasplante Autólogo de Medula Osea), Spain.   +20 more
europepmc   +1 more source

'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing. [PDF]

BMJ Case Rep
Wells PA, Basu AP, Yates LM.
europepmc   +1 more source

A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing. [PDF]

Arch Endocrinol Metab
Perez-Dionisio E, Hinojosa-Alvarez S, Chavez-Santoscoy RA, Miguel-Ibañez R, Garcia-Saenz M, Marrero-Rodriguez D, Taniguchi-Ponciano K, Henandez-Perez J, Mercado M, Ramirez-Renteria C, Sosa-Eroza E, Espinosa-Cardenas E.   +11 more
europepmc   +1 more source

Whole-exome sequencing assists in the diagnosis of hyperimmunoglobulin E syndrome: Insights into dual genetic abnormalities. [PDF]

Heliyon
Li SY, Cao W, Ge Y, Lvy W, Liu YP, Qin L.   +5 more
europepmc   +1 more source

Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects. [PDF]

Int J Mol Sci
Zodanu GKE, Hwang JH, Mudery J, Sisniega C, Kang X, Wang LK, Barsegian A, Biniwale RM, Si MS, Halnon NJ, Ucla Congenital Heart Defects-BioCore Faculty, Grody WW, Satou GM, Van Arsdell GS, Nelson SF, Touma M.   +15 more
europepmc   +1 more source

Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing. [PDF]

PLoS One
Hadjipanteli A, Theodosiou A, Papaevripidou I, Alexandrou A, Salameh N, Evangelidou P, Tomazou M, Mavrides A, Fasouliotis S, Anastasiou G, Stavroulis A, Agathokleous N, Agathokleous M, Tsangarides S, Kallikas I, Kakoullis K, Frakala S, Oxinou C, Marnerides A, Athanasiou E, Ourani S, Anastasiadou VC, Tanteles G, Kousoulidou L, Sismani C.   +24 more
europepmc   +1 more source

Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases. [PDF]

Front Genet
Ouyang X, Zhang Y, Yu T, Zhang Q, Xu L, Zhang VW, Wang B.   +6 more
europepmc   +1 more source

Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil. [PDF]

BMC Genomics
de Araújo WC, Falcão RM, Uchoa RAC, Garcia CA, da Silva AQB, Quirino KLM, Freire-Neto FP, Gurgel GP, Nascimento PRP, Ferreira LC, Duggal P, de Souza JES, Jeronimo SMB.   +12 more
europepmc   +1 more source