Results 241 to 250 of about 219,632 (346)

Preimplantation genetic testing for structural rearrangements by genome-wide SNP genotyping and haplotype analysis: a prospective multicenter clinical study. [PDF]

open access: yesEBioMedicine
Zhang S   +33 more
europepmc   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei   +9 more
wiley   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao   +13 more
wiley   +1 more source

Genetically predicted KIR2DS4 mediate the association between gut microbe K10 and osteoporosis fractures: A mediation Mendelian randomization study

open access: yesPM&R, EarlyView.
Abstract Background Osteoporosis fractures pose a significant public health concern, leading to substantial morbidity and mortality rates. The emerging evidence on the potential link between gut microbiota, proteins, and osteoporosis fractures suggests a complex relationship that warrants further investigation.
Qiong Wang   +6 more
wiley   +1 more source

The potential of seedbank digital information in plant conservation

open access: yesPLANTS, PEOPLE, PLANET, EarlyView.
Seedbanks are vital for biodiversity conservation, but their potential remains underutilised due to a limited understanding of the intraspecific genetic diversity they hold. By leveraging digitised data associated with seedbank collections, such as sampling locations, number of maternal plants and seed traits, we can attempt the estimation of genetic ...
Roberta Gargiulo   +23 more
wiley   +1 more source

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