Results 151 to 160 of about 9,142 (230)

Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with developmental delay. [PDF]

Mol Cytogenet
Qin J, Zeng Y, Qin S, Wang W, Huang J, Wei X, Chang R, Zheng X, Li Y, Yuan D, Wei X.   +10 more
europepmc   +1 more source

Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome. [PDF]

Mol Syndromol
Vergara A, Monge I, Garoz BF, Ruiz S, Alonso M, Torrelo A, Ortiz Cabrera NV.   +6 more
europepmc   +1 more source

Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis of Gynecologic Mesenchymal Tumors. [PDF]

J Mol Diagn
Wallander K, Lin Y, Ivanchuk V, Difilippo V, Chellappa V, Murugan SK, Öfverholm I, Bränström R, Nord KH, Carlson J, Haglund de Flon F.   +10 more
europepmc   +1 more source

Targeting GPR68 Alleviates Inflammation and Lipid Accumulation in Metabolic Dysfunction-Associated Steatohepatitis. [PDF]

Biology (Basel)
Wei J, Wang L, Mao Z, Zhang P.
europepmc   +1 more source

Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics. [PDF]

Gigascience
Savara J, Novosad T, Gajdos P, Petrackova A, Behalek M, Manakova J, Ctvrtlik F, Minarik J, Papajik T, Kriegova E.   +9 more
europepmc   +1 more source

3D digital exoscope is safe tool in the surgery of olfactory groove meningiomas. [PDF]

Acta Neurochir (Wien)
Tolppola L, Pohjola A, Vasankari V, Niemelä M, Lehecka M.   +4 more
europepmc   +1 more source

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy. [PDF]

Mol Cytogenet
Turtinen T, Isohanni P, Anttonen AK, Huhti L, Pylkäs K, Tikkanen M, Hakonen AH, Strang-Karlsson S, Mantere T.   +8 more
europepmc   +1 more source

Smart technologies for enhancing greenhouse production management under climate and economic challenges. [PDF]

Sci Rep
Barati AA, Zandi Nezami M, Shabanali Fami H.   +2 more
europepmc   +1 more source

Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing. [PDF]

Mol Cytogenet
Blavier G, Lecoquierre F, Guerrot AM, Hélas GJ, Rondeau S, Boland A, Deleuze JF, Nicolas G, Chambon P, Cassinari K.   +9 more
europepmc   +1 more source

Optical genome mapping identifies novel ENOX2::RUNX1 t(X;21)(q26.1;q22.12) rearrangement in acute myeloid leukemia-myelodysplasia related: first case report. [PDF]

Mol Cytogenet
George GV, Ali S, Syposs CR, Iqbal MA.
europepmc   +1 more source