Results 61 to 70 of about 75,829 (126)

Toward the genetic landscape of prostate cancer in India: insights from whole-exome and low-pass whole-genome sequencing of formalin-fixed paraffin-embedded tumor tissues. [PDF]

Front Syst Biol
Biswas S, Rajarathinam B, Khilwani B, Jalendra G, Sharma D, Vijavargiya M, Aradhya R, Ansari AS, Shukla N, Chaubey G, Lohiya NK, Suravajhala P, CA Prostate Consortium of India (CAPCI).   +12 more
europepmc   +1 more source

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort. [PDF]

Hum Mutat
Shokouhian E, Moslemi M, Moghadam MG, Molaei N, Alagha P, Reshadmanesh A, Arzhangi S, Ghodratpour F, Celik M, Kadioglu IS, Edizadeh M, Akbari MR, Kahrizi K, Najmabadi H.   +13 more
europepmc   +1 more source

Geographic and genetic diversity in gallbladder cancer mutation profiles: insights from a worldwide exome analysis. [PDF]

EBioMedicine
Gárate-Calderón V, Kumar R, Marcelain K, Zollner L, Boekstegers F, Barajas O, Loader D, Rivera MT, Morales E, de Toro G, Caglevic C, Shibata T, Lorenzo Bermejo J.   +12 more
europepmc   +1 more source

Whole genome sequencing in acute myeloid leukemia. [PDF]

Haematologica
Haferlach T.
europepmc   +1 more source

Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions. [PDF]

J Pers Med
Kang S, Lam BL, Lee W, Berrocal AM, Gregori NZ, Mendoza-Santiesteban CE, Sengillo JD.   +6 more
europepmc   +1 more source

Ending the Diagnostic Odyssey: Making Whole-Exome/Genome Sequencing the First-Line Test for Global Developmental Delay

Annals of Child Neurology
openaire   +2 more sources

Exome and Genome Sequencing for the Diagnosis of Rare Diseases. [PDF]

Dtsch Arztebl Int
Elbracht M, Krause J, Mattern L, Güzel N, Lischka A, Sun-Julia Suh D, Knopp C, Bourgeois MG, Beijer D, D'Augello S, Haag N, Rüdebusch J, Perchalla E, Lausberg E, Eggermann K, Meyer R, Kraft F, Begemann M, Eggermann T, Kurth I, members of the study group.   +20 more
europepmc   +1 more source

Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children. [PDF]

Children (Basel)
Zisi A, Kostoulas C, Sesse A, Kosmeri C, Serbis A, Lee H, Georgiou I, Siomou E.   +7 more
europepmc   +1 more source

Enhanced Exome Sequencing Improves the Genetic Diagnosis of Deafblindness. [PDF]

Genes (Basel)
Cifuentes GA, Diñeiro M, Huete AR, Capín R, Santiago A, Vargas AAR, Carrero D, Biscay J, López Martínez E, Aguiar B, Urbaniak M, Fernández-Vega B, Costales M, González-Aguado R, Cabanillas R, Cadiñanos J.   +15 more
europepmc   +1 more source

Overview of next-generation sequencing to the molecular diagnosis of inborn errors of immunity in Brazil: a systematic review. [PDF]

Front Immunol
Dos Santos-Bueno FV, Morgado ES, Agonigi BNDS, Lopes MRG, Pinheiro MO, da Silva LL, Salú MDS, Faccion RS, de Vasconcelos ZFM.   +8 more
europepmc   +1 more source