Results 31 to 40 of about 4,787 (198)
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
, 2023 We will present an updated version of our research on ultraprocessed food consumption and class in France. In Bridg’it 2022, we asked: is it a case of selective exclusion? Selective exclusion happens when the upper social groups are omnivorous but exclude some products that express lower-status tastes.
Plessz, Marie, Gojard, Séverine
openaire +1 more source
Descriptive, comparative, and functional anatomy of the facial musculature in cattle (Bos taurus)
The Anatomical Record, EarlyView.Abstract Facial expressions can provide insight into animal emotions and pain, but no standardized system for assessing the entire facial display in cattle (Bos taurus Linnaeus) exists. The Facial Action Coding System (FACS), originally developed for humans, identifies distinct facial movements based on mimetic muscles.
Maja Söderlind +6 more
wiley +1 more source
The mechanism of labor in nonhuman primates: A look inside
The Anatomical Record, EarlyView.Abstract While in humans, the flexed position of the fetus and its rotating course down the birth canal are well documented, in other primates the mechanism of labor is unknown. Despite the lack of comparative data, it is commonly assumed that the human obstetric mechanism is unique, and anthropologists have disputed when and why the transition to the ...
Melissa K. Stoller
wiley +1 more source
Sheep Horn Development Revealed by Multi‐Tissue and Cross‐Species Transcriptomic Analysis
Animal Research and One Health, EarlyView.Multi‐tissue and cross‐species transcriptomics with allele‐specific expression show sheep horns are a composite organ integrating epidermal and osteogenic programs. Conserved horn gene modules and cis‐regulatory variation fine‐tune expression networks underlying horn development and size (small scurs vs. large spiral horns).
Hao Li +10 more
wiley +1 more source
English teachers' journeys since the 2020 Iteration of Black Lives Matter
British Educational Research Journal, EarlyView.Abstract The 2020 resurgence of Black Lives Matter (BLM) mobilised students in England to demand greater representation of racially minoritised voices in English curriculums—a call highlighted by stark inequity: just 1.5% of GCSE texts studied are by racially minoritised authors, despite racially minoritised students comprising 38.0% of the student ...
Adrian Fernandes
wiley +1 more source
A General Workflow for Tangential Flow Filtration Perfusion Scale‐Up
Biotechnology and Bioengineering, EarlyView.ABSTRACT Tangential flow filtration (TFF) perfusion using hollow‐fiber modules offers substantial advantages over other mammalian cell retention technologies. Recently, increased awareness of Starling flow has helped to enhance filtration performance to similar, or even higher levels compared to alternative technologies.
Patrick Romann +20 more
wiley +1 more source
BMEMat, EarlyView.A near‐infrared (NIR) light‐activated “lock‐key” nanodevice is reported for spatiotemporally resolved detection of intratumoral L‐lactate. The system stays silent until deep‐penetrating NIR light remotely unlocks its function, allowing for precise sensing within tumors.
Siyu Pan +8 more
wiley +1 more source