Results 81 to 90 of about 156,253 (302)
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American 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
Australian Journal of Social Issues, EarlyView.ABSTRACT It is the priority of Aboriginal and Torres Strait Islander communities, and Australian governments, to provide infants with enriching environments in which they may thrive. This is particularly critical during the perinatal period. Yet, an increasing number of notifications and interventions by child protection authorities are occurring in ...
Neve Mucabel‐Bue +11 more
wiley +1 more source
Nutritional care during prenatal and postpartum periods: A report of experiences in a city on São Paulo's coast [PDF]
, 2016 Anna Sylvia de Campos LAPORTE-PINFILDI +1 more
openalex +1 more source
Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden
Annals of Neurology, EarlyView.Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael +5 more
wiley +1 more source
Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient
American Journal of Medical Genetics Part A, EarlyView.
Carli Loubser, Shahida Moosa
wiley +1 more source
Annals of Neurology, EarlyView.Objective Antiseizure medication (ASM) use during pregnancy has increased over the past decade. However, evidence linking prenatal ASM exposure to neurodevelopmental disorders (NDDs) in offspring remains inconsistent. This study evaluated whether prenatal ASM exposure increases the risk of NDDs in children.
Odile Sheehy +13 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract This study evaluated the morphogenesis of the temporomandibular joint (TMJ) in human fetuses during the third month of gestation through the analysis of immunohistochemistry for the proteins Indian Hedgehog (IHH), Patched‐1 (PTCH1), and Smoothened (SMO).
Filipe Santos da Silva +5 more
wiley +1 more source
Practical Laboratory MedicineObjective: Presentation of a novel case of a patient with Hb Bart's hydrops fetalis, which was accurately identified by SMRT sequencing leading to expand the mutation spectrum of α-thalassemia.
Zeyan Zhong +6 more
doaj +1 more source
Ontogeny of murine bony semicircular canal form
The 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
Unfused transverse foramen of the atlas vertebra in the Neandertal lineage fossils
The Anatomical Record, EarlyView.Abstract In anatomically modern humans, the atlas can display an unfused transverse foramen (UTF) but currently the presence of UTF in the Neandertal lineage is uncertain due to a scarcity of prevalence studies and no exhaustive record of its presence throughout the entire hominin fossil record.
Asier Gómez‐Olivencia +5 more
wiley +1 more source