Results 191 to 200 of about 28,641 (340)

Non‐Invasive Prenatal Diagnosis of Haemoglobinopathies: From Concept to Clinical Reality

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Haemoglobinopathies are the most prevalent monogenic disorders worldwide, contributing significantly to childhood morbidity and mortality. Preventive strategies, including carrier screening and prenatal diagnosis, have successfully reduced disease incidence in regions with established programmes.
Irene Leonidou   +7 more
wiley   +1 more source

Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Clément Desjardins   +9 more
wiley   +1 more source

Genome‐Wide NIPT With Fetal‐Fraction Enrichment and BinDel: Clinical Cohort Evaluation of Microdeletion and ‐Duplication Detection

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the analytical and clinical performance of fetal fraction (FF) enriched genome‐wide noninvasive prenatal testing (GW‐NIPT) for the detection of clinically relevant copy number variants (CNVs) down to 1 Mb. Methods We retrospectively analyzed 10,501 singleton pregnancies tested with FF enrichment‐based GW‐NIPT between ...
Karmen Vaiküll   +6 more
wiley   +1 more source

Soybean plant architecture influences the capacity of Telenomus podisi to parasitize Euschistus heros eggs: implications for field releases

open access: yesPest Management Science, EarlyView.
Increasing soybean plant architectural complexity reduces the ability of Telenomus podisi to parasitize Euschistus heros eggs, highlighting the need to adjust parasitoid release rates in the field according to plant complexity (arrow direction and thickness correspond to the increasing strength of the variable) . Abstract BACKGROUND Plant architectural
Nathália Graziele Falcão Fernandes   +3 more
wiley   +1 more source

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