Results 121 to 130 of about 10,451,845 (193)

A cohort study of fetal urinary tract abnormalities and chromosomal copy number variations: a retrospective analysis of 9-year data. [PDF]

Arch Gynecol Obstet
Chen L, Yang W, Liu L, Shen H, Wang C, Wang R, Li Q, Liu Y, Di Z, Lv N, Huang X, Liu M.   +11 more
europepmc   +1 more source

Distinct Tryptase Gene Copy Number Variations Correlate With Tryptase Levels in a Population-Based Cohort. [PDF]

Allergy
Chantran Y, Choi S, Roda C, Barete S, Hirsch P, Hermine O, Polivka L, Rossignol J, Arock M, Rancière F, Momas I.   +10 more
europepmc   +1 more source

Toward Graph-Based Decoding of Tumor Evolution: Spatial Inference of Copy Number Variations. [PDF]

Diagnostics (Basel)
Zhang Y, Yang Y, Kong Y, Zhong B, Nakai K, Lu H.   +5 more
europepmc   +1 more source

How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle. [PDF]

Psychiatry Clin Neurosci
Wang T, Trabzonlu K, Jones EF, Syed YA.
europepmc   +1 more source

Systematic mapping and in silico reevaluation of genomic copy number variations in primary ovarian insufficiency.

J Clin Endocrinol Metab
Hossein Garakani M, Kakavand K, Hajiesmaeili Y, Haratian K, Z Moradi M, Zarei Moradi S, Mohseni Meybodi A.   +6 more
europepmc   +1 more source

Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders. [PDF]

BMC Med Genomics
Mohamed AM, Eid OM, Amr KS, Mahrous R, Hemimi M, Elsaeid A, Erian PSF, Gharib S, Hussein SH, El-Massieh PMA, Meguid NA.   +10 more
europepmc   +1 more source

Toward Comprehensive Clinical Genomics: Integrating Exon-Level Analysis for Detecting Monogenic Copy Number Variations. [PDF]

Ann Lab Med
Seo EJ.
europepmc   +1 more source

Whole Exome Sequencing Reveals Potential Single Nucleotide Polymorphisms and Copy Number Variations in 26 Sporadic Patients with Immature Teratoma. [PDF]

Int J Gen Med
Liu Y, Jia Y, Du N, Li Y, Wang C, Kang S.   +5 more
europepmc   +1 more source

Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies. [PDF]

Mol Cytogenet
Suo F, Wang J, Liao M, Wang Y, Zhang Y, Lu X, Gou L, Zhang M, Wu Q, Yin X, Li X, Sun M, Wang L, Gu M, Zhu J.   +14 more
europepmc   +1 more source

Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights. [PDF]

Mol Cytogenet
Khelifi R, Othmane H, Ajmi H, Slimani W, Bennour A, Dardour L, Soyeh N, Benzarti A, Rjiba K, Abdallah HH, Rassass A, Kooli R, Mghirbi O, Kammoun M, Khelifa HB, Bahri F, Hayet M, Ammar A, Ghanmi S, Mathlouthi J, Ben Hamida H, Habboul Z, Kemis T, Kharrat H, Hassine N, Tej A, Bellalah M, Chouikh F, Houssine M, Mahdhaoui A, Kortas C, Guith A, Maatouk F, Naffeti E, Soua H, Gribaa M, Saad A, Mougou-Zerelli S.   +37 more
europepmc   +1 more source