Chromosomal Microarray Analysis - Genetic Mutations

Relevant Publications

Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.

Issue Release: 2024

Longer prostate stromal cell telomere length is associated with increased risk of death from other cancers.

Issue Release: 2024

Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case report and literature review.

Issue Release: 2024

The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases.

Issue Release: 2024

Phenotypic Features in a New 12q21 Deletion and Its Association With Cardiofaciocutaneous Syndrome.

Issue Release: 2024

[Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication].

Issue Release: 2024

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.

Issue Release: 2024

Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism.

Issue Release: 2024

Elevated sperm DNA fragmentation is correlated with an increased chromosomal aneuploidy rate of miscarried conceptus in women of advanced age undergoing fresh embryo transfer cycle.

Issue Release: 2024

Prenatal Screening and Diagnosis: Time for a Paradigm Shift.

Issue Release: 2024

18q Deletion Syndrome-Associated Schizophrenia: A Case Report.

Issue Release: 2024

Whole-exome-based single nucleotide variants and copy number analysis for prenatal diagnosis of compound heterozygosity of SMPD4.

Issue Release: 2024

Subungual melanoma with cartilaginous differentiation: Molecular insights.

Issue Release: 2024

Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.

Issue Release: 2024

A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer-Rokitansky-Küster-Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5.

Issue Release: 2024

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.

Issue Release: 2024

Assessment of Gene Set Enrichment Analysis using curated RNA-seq-based benchmarks.

Issue Release: 2024

Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion.

Issue Release: 2024

Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities.

Issue Release: 2024

Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.

Issue Release: 2024

Why are Induced Mutations Important in Research?

What are the advantages of using ZFNs?

Why is Karyotyping Important in the Context of Genetic Mutations?

What Types of Mutations Occur in Non-Coding Regions?

What is CRISPR Technology?

What is a Mutation?

How Do PARP Inhibitors Work?

How Are These Genetic Mutations Detected?

What Are the Challenges in Phylogenetic Analysis?

What are Current Research Trends in Genetic Mutations?

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