Results 131 to 140 of about 22,450 (179)

A Complex Chromosome Rearrangement Disrupting <i>SYT1</i> Supports Haploinsufficiency as a Cause of Baker-Gordon Syndrome. [PDF]

Case Rep Genet
Bertola DR, Farias SO, da Costa SS, Pinheiro MMLS, Passos-Bueno MRDS, Rosenberg C, Krepischi ACV.   +6 more
europepmc   +1 more source

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C). [PDF]

Adv Genet (Hoboken)
Brownstein CA, van der Made CI, Cabral K, Rockowitz S, Kang D, Schieck M, Pang AWC, Robinson JM, Hastie AR, Chaubey A, C.O.V.I.D19hostgenomeS.V. Consortium, Hoischen A, Beggs AH, Adebamowo CA, Andalibi A, Bacanu SA, Bafna V, Bahl J, Barseghyan H, Beggs A, Burdette L, Butte M, Constantoulakis P, Crandall KA, Dehkordi SR, Dennis M, Fang G, Fedrigo O, Finlay D, Goldman MA, Gurusamy U, Hayes V, Hickey G, Hoischen A, Illig T, Ioannidis A, Jarvis E, Koizumi N, Kolhe R, Laamarti M, Labranche C, Leibel S, Levy B, Loose M, Mello C, Nasir J, Phung TL, Rao CPV, Ross T, Sahajpal NS, Shamanna RK, Soto DC, Trablesi A, Wang ZX, Williams SL, Wright V, Zhao H, Zody M.   +57 more
europepmc   +1 more source

Autobiographical narratives in major depression: changes in memory specificity during outpatient psychodynamic psychotherapy. [PDF]

BMC Psychiatry
Lutz M, Nowak JR, Dönnhoff I, Friederich HC, Terhoeven V, Nikendei C.   +5 more
europepmc   +1 more source

Successful optical genome mapping from 500 000 cells: A low-input UHMW DNA extraction approach. [PDF]

MethodsX
De Vlieghere E, Nollet F, Devos H, Cauwelier B.   +3 more
europepmc   +1 more source

GPR68, A Proton-sensing GPCR, Mediates Acid-induced Visceral Nociception. [PDF]

Cell Mol Gastroenterol Hepatol
Paine LW, Gupta R, Higham JP, Aguilera-Lizarraga J, Ritoux A, Pritchard T, Nicholson S, Hockley JRF, Raine T, Hausmann M, Bednar K, Rogler G, Welsh F, Smith ESJ, Bulmer DC.   +14 more
europepmc   +1 more source

Benchmarking standard-of-care and emerging genomic approaches to enhance diagnosis in pediatric acute lymphoblastic leukemia. [PDF]

Br J Cancer
Gil JV, Avetisyan G, Miralles A, de Las Heras S, Díaz-González Á, López-Benet C, Del Cañizo M, Vicente A, Andreu R, Fuentes C, Fernández JM, Barragán E, Such E, Llop M.   +13 more
europepmc   +1 more source

Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement. [PDF]

Mol Cytogenet
Graziani L, Genovese S, Genovesi ML, Di Rosa C, Di Noi R, Loddo S, Bengala M, Colona VL, Novelli A, Novelli G, Alesi V, Nardone AM.   +11 more
europepmc   +1 more source

DUCKS4: a comprehensive workflow for Nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD). [PDF]

Hum Genomics
Löwenstern T, Madritsch S, Horner D, Brait N, Güleray Lafci N, Schachner A, Gerykova Bujalkova M, Kałużewski T, Szyld P, Hengstschläger M, Dremsek P, Laccone F.   +11 more
europepmc   +1 more source

Pharmacological Enhancement of Integrated Stress Response Confers Protection in Calcific Aortic Valve Disease. [PDF]

JACC Basic Transl Sci
Wang L, Duan X, Liu H, Lin F, Zhou C, Schröder K, Shah AM, Zhao G, Zhang M.   +8 more
europepmc   +1 more source