Results 271 to 280 of about 2,227,658 (392)
Jee Yoon Park +5 more
semanticscholar +1 more source
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum +13 more
wiley +1 more source
Proteomic Characterization of Cardioprotective Human Acellular Amniotic Fluid. [PDF]
Bia R +6 more
europepmc +1 more source
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley +1 more source
Amniotic fluid reduces liver fibrosis by attenuating hepatic stellate cell activation. [PDF]
Bowen CM +9 more
europepmc +1 more source
Amniotic Fluid and its Co-Relation with Pregnancy Outcome in High Risk Pregnancies
V. Ramadevi
openalex +1 more source
FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arda Arduç +8 more
wiley +1 more source
Proteomic analysis of secreted proteins derived from amniotic fluid stem cells. [PDF]
Phermthai T +6 more
europepmc +1 more source

