Results 1 to 10 of about 236,633 (310)

The role of satellite DNA-enriched heterochromatic variants in reproductive disorders: Insights from standardized cytogenetic analysis. [PDF]

Chromosome Res
Pires S, França I, Oliveira P, Jorge P, Liehr T, Oliva-Teles N.   +5 more
europepmc   +1 more source

Parallel Single-Tissue Summary-Data Mendelian Randomization and Functional Validation Identify the ARRDC1 Promoter SNP rs4494021 as a Genetic Marker Associated with Anxiety Disorders. [PDF]

Neuropsychiatr Dis Treat
Wang L, Xu Z, Luo G, Wei W, Guo M, Yuan Y, Shi B, Guan H, Liu S, Li X.   +9 more
europepmc   +1 more source

A Familial X-Linked Disorder of Sexual Development in Thoroughbred Horses Associated With a Novel Androgen Receptor Splice-Site Variant. [PDF]

Anim Genet
Letko A, Jagannathan V, Drögemüller C, Lühken G.   +3 more
europepmc   +1 more source

Genetic Architecture of Addiction-Relevant Behaviors in Outbred Sprague-Dawley Rats Reveals Loci for Anxiety-Like and Nociceptive Traits. [PDF]

Genes Brain Behav
Chitre AS, Hebda-Bauer EK, Emery MA, Li F, Nguyen KM, Wang Y, Cheng R, Polesskaya O, Watson SJ, Li J, Akil H, Palmer AA.   +11 more
europepmc   +1 more source

Genetic testing and analysis of 1024 children with global developmental delay or intellectual disability: a single-center cohort study. [PDF]

Eur J Pediatr
Wang B, Ji X, Wu F, Shen M, Zheng P, Feng S, Wu H, Li S, Liu A, Xie L, Zhang X, Chen Q.   +11 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

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 16p13.11 microduplications. [PDF]

Medicine (Baltimore)
Xu T, Yue F, Ge Y, Liu R.
europepmc   +1 more source

Diagnostic Yield of Phenotype-Guided Genetic Testing in Infertility: A Five-Year Retrospective Study from a Tertiary Referral Cohort. [PDF]

Diagnostics (Basel)
Aleknavičienė K, Šukys M, Žemeckienė Ž, Žilaitienė B, Ugenskienė R.   +4 more
europepmc   +1 more source

A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Minale EMP, Martone S, Criscuolo C, Marra R, Lasorsa VA, Ruggiero R, Suero T, Capasso M, Andolfo I, Iolascon A, Russo R, Pinelli M.   +11 more
europepmc   +1 more source

Integrative Bioinformatics Analyses Reveal X Chromosome Inactivation Escape Genes Dosage Dysregulation Is the Primary Contributor to Turner Syndrome. [PDF]

Iran J Biotechnol
Liang H, Li Z, Zhang F.
europepmc   +1 more source