Results 291 to 300 of about 3,677,492 (346)

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center. [PDF]

Orphanet J Rare Dis
Fecarotta S, Vaccaro L, Verde A, Alagia M, Rossi A, Colantuono C, Cacciapuoti MT, Annunziata P, Riccardo S, Grimaldi A, Fusco T, De Santis R, Barretta F, Albano L, Crisci D, Vallone F, Tarallo A, Cesana M, Brunetti-Pierri N, Frisso G, Ruoppolo M, Cacchiarelli D, Parenti G.   +22 more
europepmc   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Inferring replication timing and proliferation dynamics from single-cell DNA sequencing data. [PDF]

Nat Commun
Weiner AC, Williams MJ, Shi H, Vázquez-García I, Salehi S, Rusk N, Aparicio S, Shah SP, McPherson A.   +8 more
europepmc   +1 more source

Microbial cell-free DNA-sequencing as an addition to conventional diagnostics in neonatal sepsis. [PDF]

Pediatr Res
Balks J, Grumaz S, Mazzitelli S, Neder U, Lemloh L, Melaku T, Glaser K, Mueller A, Kipfmueller F.   +8 more
europepmc   +1 more source

Mugen-UMAP: UMAP visualization and clustering of mutated genes in single-cell DNA sequencing data. [PDF]

BMC Bioinformatics
Li T, Zou Y, Li X, Wong TKF, Rodrigo AG.
europepmc   +1 more source

Development of Simple Sequence Repeat of Monochamus alternatus (Coleoptera: Cerambycidae) Based on Restriction Site-Associated DNA Sequencing. [PDF]

Biology (Basel)
Lu J, Zhang S, Liu J, Zhang Y, Hu L, Yang Z, Hu P.   +6 more
europepmc   +1 more source

Reconstructing tumor clonal heterogeneity and evolutionary relationships based on tumor DNA sequencing data. [PDF]

Brief Bioinform
Wang Z, Fang Y, Wang R, Kong L, Liang S, Tao S.   +5 more
europepmc   +1 more source

Errors in Figure 4 and Incorrect DNA Sequencing Manufacturer.

JAMA Oncol
europepmc   +1 more source