Results 141 to 150 of about 424,277 (296)

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Following the first French multicenter pilot study (AnDDI‐Prenatome) focused on the implementation of prenatal exome sequencing (pES), this ancillary study aims to explore the ethical and clinical issues raised by pES within multidisciplinary prenatal diagnosis centers.
Charlène Daval   +39 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell   +6 more
wiley   +1 more source

114 CASE REPORT: SODIUM BROMATE, A SILENT NEPHROTOXIN

open access: yesKidney International Reports, 2017
D.Y. Mah, W.S. Cheong, S.Y. Tay
doaj   +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

Harmonising digitised herbarium data to enhance biodiversity knowledge: Major steps towards an updated checklist for the flora of Greenland

open access: yesPLANTS, PEOPLE, PLANET, EarlyView.
Herbaria worldwide hold centuries of plant data that are key to understanding and protecting biodiversity; however, even with increased digital access, differences in plant naming systems make it difficult to compare records. We developed a semi‐automated workflow that standardises species names and organises herbaria records from multiple institutions
Brandon Samuel Whitley   +17 more
wiley   +1 more source

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