Results 91 to 100 of about 78,018 (293)
Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman +6 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Ultrasound findings of fetal edema may provide early evidence of a genetic disorder. Our objective was to evaluate the frequency and diagnostic yield of sequencing in a selected population after a non‐diagnostic microarray result for fetal edema.
Victoria M. Allen +5 more
wiley +1 more source
From Giessen to Toulouse: 20 years in domestic animal cytogenetics [PDF]
, 1991 I. Gustavsson
openalex +1 more source
CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 3, Page 448-459, March 2025.Abstract Myelodysplastic syndromes (MDS) represent a group of bone marrow disorders involving cytopenias, hypercellular bone marrow, and dysplastic hematopoietic progenitors. MDS remains a challenge to treat due to the complex interplay between disease‐induced and treatment‐related cytopenias.
Neha Thakre +5 more
wiley +1 more source
Implementation of the Fluorescent in Situ Hybridization technique in the Faculty of Medicine, UdelaR
Anales de la Facultad de Medicina, 2017 The Cytogenetic Laboratory of the Faculty of Medicine processes, on average, 300 annual samples of public and private healthcare centers by conventional cytogenetics.
Andrea Cairus +5 more
doaj
Small, EarlyView.This work explores the tailored functionalization of mesoporous silica nanoparticles (MSN) to improve the oral delivery of insulin, as a case study. Insulin confinement within silica mesopores increased drug solubility, and co‐formulation with succinylated β‐lactoglobulin yielded pH‐responsive tablets that limited gastric release and proteolysis, while
Claudia Iriarte‐Mesa +14 more
wiley +1 more source
Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype
Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema +5 more
wiley +1 more source
Environmental Toxicology, EarlyView.ABSTRACT Over the past decades, the growth in human population and economic activities has led to an increase in maritime traffic. This rise puts additional pressure on marine environments, vessel fuel spills being considered to have a major impact on the ecosystem.
Carlos Valiente‐Diaz +2 more
wiley +1 more source
Erratum: Structural alterations in chronic lymphocytic leukaemia. Cytogenetic and FISH analysis [PDF]
, 2013 openalex +1 more source
Molecular Cytogenetic Characterization of C-Band-Positive Heterochromatin of the Greater Long-Tailed Hamster (Tscherskia triton, Cricetinae) [PDF]
, 2022 Eikichi Kamimura +4 more
openalex +1 more source