Results 131 to 140 of about 49,297 (181)

Genome sequencing-based CNV analysis in an infant with concurrent partial trisomies 9p and 12p due to maternal translocation: A case report. [PDF]

Medicine (Baltimore)
Azher Z, Alsabban M, Ali LA, Naffadi H, Ekram S, Obaid R.   +5 more
europepmc   +1 more source

Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders. [PDF]

Hum Mutat
Mutlu MB, Öğütlü ÖBG, Öz Ö, Duymuş F, Seyhan S, Tokaç AGB, Tezcan E, Öğütlü H, Demiryılmaz F, Silahtarlıoğlu N, Bilgil K, Elma S, Erdoğan M, Gümüş H, Kumandaş S, Kılıçaslan F.   +15 more
europepmc   +1 more source

Chromosomal rearrangements: tempo and mode of karyotype evolution in Scarabaeoidea. [PDF]

J Evol Biol
Chien S, Blackmon H.
europepmc   +1 more source

Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing. [PDF]

Genome Res
Bilgrav Saether K, Salazar Mantero A, Ek M, Pettersson M, Syk Lundberg E, Grochowski CM, Carvalho CMB, Eisfeldt J, Lindstrand A.   +8 more
europepmc   +1 more source

Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report. [PDF]

Clin Case Rep
Khalid R, Fadl-Elmula I.
europepmc   +1 more source

Flexible and rapid validation of structural variation using adaptive sampling. [PDF]

Eur J Hum Genet
Paivandy A, Lenner F, Eisfeldt J, Jonson T, Ehrencrona H, Lindstrand A, Scherer SW, Feuk L.   +7 more
europepmc   +1 more source

Flying fish as useful model for evolutionary investigations in epipelagic zones. A cytogenomic and cytotaxonomic approach. [PDF]

Comp Cytogenet
da Costa GWWF, Shibatta OA, Cioffi MB, Vidal JAD, Bertollo LAC, Molina WF.   +5 more
europepmc   +1 more source

Acquired pericentric inversion of der(9) with BCR and ABL1 codeletion in chronic myeloid leukemia: a rare cytogenetic finding from Mali. [PDF]

Mol Cytogenet
Samassekou O, Goita MK, Ly M, Bathily M, Ongoiba C, Landouré G, Traoré M.   +6 more
europepmc   +1 more source

Functional and genomic characterization of LCN2-deficient PC-3 cells reveals insights into prostate cancer progression. [PDF]

Front Mol Biosci
Gäberlein K, Keller DT, Schröder-Lange SK, Torkler P, Grimm DG, Steinlein C, Haaf T, Nanda I, Weiskirchen R.   +8 more
europepmc   +1 more source

Telomere-to-Telomere Genomes Reveal that Multiscale Evolution Shapes the Largest Metabolic Arsenal of Diaporthe Fungi. [PDF]

Adv Sci (Weinh)
Li K, Zhang C, Zhang Z, Cheng J, Gao Q, Gao L, Zhao X, Yan W, Wang Y, Ye W.   +9 more
europepmc   +1 more source