Results 231 to 240 of about 125,929 (352)

Amniotic fluid embolism: case with biochemical findings. [PDF]

open access: bronze, 1966
James Willocks   +2 more
openalex   +1 more source

Internal Limiting Membrane Flap Versus Conventional Peeling for Idiopathic Full Thickness Macular Holes: A Registry Analysis of 2990 Eyes

open access: yesClinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background To compare the anatomical and functional outcomes of internal limiting membrane (ILM) flap and conventional ILM peeling in idiopathic full‐thickness macular holes (FTMHs). Methods Retrospective cohort study of all eyes treated with vitrectomy and ILM peeling (ILM‐P) with or without ILM flap (ILM‐F) for primary idiopathic FTMH repair
Zi Jin   +13 more
wiley   +1 more source

Amniotic Fluid and Maternal Serum Laeverin Levels and Their Correlations with Fetal Size and Placental Volume in Second Trimester of Pregnancy—A Prospective Cross-Sectional Study [PDF]

open access: gold
János Sikovanyecz   +7 more
openalex   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

open access: yesClinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari   +7 more
wiley   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

open access: yesClinical Genetics, EarlyView.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib   +12 more
wiley   +1 more source

Amniotic fluid embolism: A case-series. [PDF]

open access: yesObstet Med
Jaya-Bodestyne SL   +6 more
europepmc   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

open access: yesClinical Genetics, EarlyView.
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

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