Results 161 to 170 of about 399,686 (316)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva   +13 more
wiley   +1 more source

Trabecular bone ontogeny of the human talus

open access: yesThe Anatomical Record, EarlyView.
Abstract Studies of trabecular ontogeny may provide insight into the factors that drive healthy bone development. There is a growing understanding of how the juvenile skeleton responds to these influences; however, gaps in our knowledge remain. This study aims to identify ontogenetic trabecular patterns and regional changes during development within ...
Rebecca A. G. Reid   +2 more
wiley   +1 more source

An elastic segment of the whisker shaft enables coding of the whisking phase via whisker torsion in rats and mice

open access: yesThe Anatomical Record, EarlyView.
An elastic segment was found in the basal part of the whisker shaft in rats and mice. Application of force to the whisker bulb of isolated follicles caused bending and twisting of this segment. Active whisker movements deform this segment, causing whisker shaft deflection and selective activation of mechanoreceptors at different phases of whisking ...
Sebastian Haidarliu   +4 more
wiley   +1 more source

Ontogeny of murine bony semicircular canal form

open access: yesThe Anatomical Record, EarlyView.
Abstract The labyrinthine geometry and functional anatomy of the semicircular canals have intrigued scientists for decades, and there has been considerable interest in understanding how these complex structures grow and develop with evidence emerging from human studies that size maturation occurs exceptionally early by comparison with other systems ...
Marcela Cárdenas‐Serna   +1 more
wiley   +1 more source

Postpartum pancreatitis

open access: yesJournal of Obstetrics and Gynaecology, 2006
J, Mechery, D, Burch
openaire   +2 more sources

A detailed redescription of a skeletally immature ‘Redondasaurus’ suggests ontogenetic transformations in the taxon mirror phytosaurian morphological evolution

open access: yesThe Anatomical Record, EarlyView.
Abstract The study of morphological evolution is fundamentally tied to ontogeny, yet studies of these heterochronic processes in the fossil record are rare. Fossils belonging to an ontogenetic series are difficult to assign to an ontogenetic stage due to inconsistent proxies for skeletal ages, challenging to taxonomically assign due to morphological ...
Erika R. Goldsmith, Michelle R. Stocker
wiley   +1 more source

Postpartum acquired hemophilia A: immunopathogenesis, diagnostic challenges, and treatment with the CyDRi protocol. [PDF]

open access: yesPathol Oncol Res
Szappanos Á   +10 more
europepmc   +1 more source

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