Case Report: Concurrent maternal uniparental disomy-type Prader-Willi syndrome and X-linked G6PD deficiency-an area of focus on multi-gene screening for imprinting disorders. [PDF]
Zhou Q, Yuan JM, Zou CC.
europepmc +1 more source
Clinically relevant chromosomal abnormalities and chromosomal polymorphisms in 7,530 patients undergoing reproductive genetic counseling: a retrospective cytogenetic study in a Chinese Han population. [PDF]
Wu S, Shang H, Wang W, Chen D, Wu W.
europepmc +1 more source
To date the knowledge of repeated elements in the snake genome is scarce and mostly limited to various satellite and microsatellite sequences, found in species belonging to different taxonomic groups.
MEZZASALMA, MARCELLO +4 more
core
Familial Robertsonian Translocation Involving Two Autosomes in Swiss Entlebucher Mountain Dogs. [PDF]
Pieńkowska-Schelling A, Schelling C.
europepmc +1 more source
Before hormones: early sex-specific mechanisms shaping nervous system development, function, and postnatal disease susceptibility. [PDF]
Tsiarli MA, Larschan EN.
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Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders. [PDF]
Lederbogen RC +11 more
europepmc +1 more source
Clinical Characteristics of End-Organ Failure as a Cause of Primary Amenorrhea: Multicenter Study in Korean Population. [PDF]
Chung YS +9 more
europepmc +1 more source
Duplication of the <i>SOX3</i> gene in an <i>SRY</i>-negative boy with a 46,XX karyotype: a case report and a review of the literature. [PDF]
Martinková J +8 more
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