Results 1 to 10 of about 22,450 (179)

Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy. [PDF]

Front Genet
Min S, Sun J, Chen W, Feng Z, Zhuang Q, Gao Y, Lin S, Sun S, Lu Y, Li S, Tian X, Huang G, Sheng W, Huang X.   +13 more
europepmc   +1 more source

Multi-Omics Characterization of a KIF1C Structural Variant in a Patient with a Complex Movement Disorder Partially Responsive to Deep Brain Stimulation. [PDF]

Cerebellum
Thomsen M, Borsche M, Yépez VA, Rasche D, Ullrich KK, Tadic V, Abdelwakeel SM, Busch H, Franzenburg S, Trinh J, Klein C, Lohmann K, Brüggemann N.   +12 more
europepmc   +1 more source

The Silent Revolution of the Genome: The Role of Optical Genome Mapping in Acute Lymphoblastic Leukemia. [PDF]

Cancers (Basel)
Simio C, Molica M, De Fazio L, Rossi M.
europepmc   +1 more source

Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development. [PDF]

Biol Sex Differ
Nascimento-Vidoti CG, Fabbri-Scallet H, Guaragna MS, de Wallau MB, de Souza VS, da Costa SS, Krepischi ACV, Mazzeu JF, Carvalho CMB, Maciel-Guerra AT, Guerra-Júnior G, Vieira TP.   +11 more
europepmc   +1 more source

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities. [PDF]

Genome Res
Raeisi Dehkordi S, Jia Z, Estabrook J, Hauenstein J, Miller N, Güleray-Lafci N, Neesen J, Hastie A, Chaubey A, Wing Chun Pang A, Dremsek P, Bafna V.   +11 more
europepmc   +1 more source

v. 66, no. 10, November 6, 1997 [PDF]

, 1997

core   +1 more source

Molecular role of developmentally regulated GTP-binding protein 1 in coordinating osteoclast and osteoblast differentiation during bone remodeling. [PDF]

Mol Cells
Kim JH, Seong S, Kim K, Kim I, Koh JT, Kim N.   +5 more
europepmc   +1 more source

Comparative Analysis of Targeted RNA-Seq and Optical Genome Mapping for Detecting Gene Rearrangements in Acute Leukemia. [PDF]

Cancers (Basel)
Ok CY, Tang G, Loghavi S, Hu S, Wei Q, Quesada AE, Routbort MJ, Kanagal-Shamanna R, Yin CC, Sarami I, Garces S, Agarwal NK, Luthra R, Fang H, Jelloul FZ, Bryan J, Medeiros LJ, Patel KP, Toruner GA.   +18 more
europepmc   +1 more source

Crista Galli Pneumatization Complicating Olfactory Groove Meningioma Resection: A Case Report. [PDF]

Cureus
Kavouridis V, Kasper EM.
europepmc   +1 more source

Unveiling genomic rearrangements in engineered iPSC lines by optical genome mapping. [PDF]

Mol Ther Methods Clin Dev
Finlay D, Hor P, Goldenson BH, Li XH, Murad R, Kaufman DS, Vuori K.   +6 more
europepmc   +1 more source