Results 81 to 90 of about 17,154 (212)

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies. [PDF]

open access: yesClin Genet
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Chesneau B   +7 more
europepmc   +2 more sources

A STEP IN STONE. ONTOLOGIES OF PODOMORPHIC PETROGLYPHS IN SOUTHERN SCANDINAVIAN BRONZE AGE

open access: yesOxford Journal of Archaeology, EarlyView.
Summary During the Bronze Age, a particular type of podomorphic petroglyph was produced on the outcrops by the sea in southern Scandinavia. In this text, their distribution, organization and articulation are analyzed in the Mälaren region of central‐eastern Sweden.
Fredrik Fahlander
wiley   +1 more source

Trauma and affect in a Holocaust survivor's story: Rosita Fanto's novel Rozalia Alone

open access: yesOrbis Litterarum, EarlyView.
Abstract My article endeavors to redress the neglect of Rosita Fanto's Rozalia Alone (2010), which deals with a page of history that is less known worldwide, the Holocaust in Romania. Using a trauma studies perspective that mixes with affect theory, the article demonstrates that Rozalia Alone covers in a nutshell the whole magnitude of the late 1930s ...
Arleen Ionescu
wiley   +1 more source

Evaluation of HSYA and Carthamin Accumulation in Safflower (Carthamus tinctorius L.) Induced by Chemical Mutagens (EMS and SA) in M1 and M2 Generations

open access: yesPlant Breeding, EarlyView.
ABSTRACT Historically cultivated for medicinal and dyeing purposes, safflower (Carthamus tinctorius L.) saw a shift towards widespread oilseed production after the 1920s due to the growing importance of oils. However, there is a renewed interest in its medicinal and dyeing properties today.
Tansu Uskutoglu   +2 more
wiley   +1 more source

Narrative reconstruction of the self: Living funerals as rituals of trauma and transformation

open access: yesThe Australian Journal of Anthropology, EarlyView.
Abstract Living funerals mark a radical reconfiguration of contemporary engagements with mortality, transforming death from an imposed ending into an actively authored narrative. This study examines the practice in Hong Kong's hybrid sociocultural landscape, where traditional Chinese death rituals collide with neoliberal selfhood and globalised ...
Yuen‐Ki Tang
wiley   +1 more source

A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature

open access: yesBMC Medical Genomics
Background Coffin-Siris syndrome is a clinically elusive and rare genetic disease characterized by a wide range of clinical manifestations. This study deeply analyzed and identified the clinical phenotype and genetic variant location in a pediatric ...
Guibin Bai   +5 more
doaj   +1 more source

Do Mobile Phone Surveys Supplement Other Mortality Surveillance Methods? Results From a National Study in Bangladesh

open access: yesTropical Medicine &International Health, EarlyView.
ABSTRACT Objectives To test whether mobile phone surveys conducted remotely might generate data on deaths that are not covered by mortality surveillance systems established in laboratories and health facilities, or in institutions involved in the post‐mortem management of corpses (e.g., morgues, cemeteries).
Aashish Gupta   +11 more
wiley   +1 more source

Living in the Mycelial World

open access: yesTopics in Cognitive Science, EarlyView.
Abstract This manuscript documents a systematic ethnomycological analysis of ethnographic archives. Focusing on texts describing human–fungi interactions, I conduct a global, cross‐cultural review of mushroom use, covering 193 societies worldwide. The study reveals diverse mushroom‐related cultural practices, emphasizing the significance of fungi ...
Roope O. Kaaronen
wiley   +1 more source

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