Results 241 to 250 of about 40,575 (336)

Hemophilia A: An Ideal Disease for Prenatal Therapy

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada   +2 more
wiley   +1 more source

Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley   +1 more source

Determining Sex-Specific Gene Expression Differences in Human Chorion Trophoblast Cells. [PDF]

open access: yesInt J Mol Sci
Goncharov DDA   +6 more
europepmc   +1 more source

A STOP‐Gain RNF213 Variant Causes Chorea, Stroke‐Like Episodes, and Leigh Syndrome‐Like Encephalopathy

open access: yes
Movement Disorders, EarlyView.
Roberta Bovenzi   +8 more
wiley   +1 more source

Residual Risks of Fetal Chromosome Aberrations When Cell‐Free DNA Prenatal Screening Is Normal: A Retrospective Study

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objectives To estimate the residual risk of fetal chromosomal aberrations in pregnant women with normal cell‐free DNA (cfDNA) screening results to refine prenatal counseling. Methods A retrospective single‐center study was conducted between April‐2017 and March‐2021. In total, 46,007 women received a normal cfDNA screening result.
Adriana I. Iglesias   +21 more
wiley   +1 more source

Enhanced high-throughput embryonic photomotor response assays in zebrafish using a multi-camera array microscope. [PDF]

open access: yesSLAS Technol
Jamison J   +8 more
europepmc   +1 more source

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