Results 121 to 130 of about 133,322 (241)

A Novel PLP1 Gene Mutation Causing Hereditary Spastic Paraplegia Type 2: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT We report a case of a female patient with hereditary spastic paraplegia type 2 (SPG2), who harbors a novel heterozygous nonsense mutation (c.166C>T/p.Gln56*) in the proteolipid protein 1 (PLP1) gene, which has been previously unpublished in the literature. This discovery expands the spectrum of pathogenic mutations in the PLP1 gene.
Qiaoling Tan, Wei Dong
wiley   +1 more source

Delayed diagnosis of 3β‐HSD7 deficiency in adolescence: Two case reports and review of the literature

open access: yesJPGN Reports, Volume 7, Issue 2, Page 236-241, May 2026.
Abstract Congenital bile acid synthesis defects (BASD), the most common of which is 3β‐hydroxy‐Δ5‐C27‐steroid dehydrogenase oxidoreductase (3β‐HSD7) deficiency, are a rare cause of fat‐soluble vitamin malabsorption. We describe a 14‐year‐old girl who presented at 14 months with a left distal femur fracture and failure to thrive.
Samantha Pendleton   +6 more
wiley   +1 more source

Consanguinity in the Maltese Islands [PDF]

open access: yes, 2015
Consanguineous marriages may increase the risk of some medical conditions and may be useful to examine social and other aspects. There were few such marriages in the Maltese islands until late in the 19th C when they increased until they began to decline
Wyatt, H.V.
core  

Knowledge, Attitudes and Practices of Cattle Owners Towards Bovine Tuberculosis in and Around Nekemte Town, Western Ethiopia

open access: yesVeterinary Medicine and Science, Volume 12, Issue 3, May 2026.
Cattle owners KAPs towards bovine tuberculosis were assessed using a structured questionnaire. Out of 200 study participants 20.5%, 33.5% and 29.0% showed good knowledge, desired attitude and appropriate practices, respectively. Education level was associated with their KAPs, and awareness creation campaigns using a one health approach are necessary ...
Yihenew Getahun Ambaw   +5 more
wiley   +1 more source

The dynamics of criminal collaboration: Multiplex ties in mafia networks

open access: yesCriminology, Volume 64, Issue 2, Page 284-312, May 2026.
Abstract This study examines how social embeddedness and multiplex relationships shape criminal collaboration within organized crime networks. Drawing on data from three major investigations into the ‘Ndrangheta, we analyze how kinship, clan affiliation, leadership, and prior interactions influence participation in meetings and phone calls.
Francesco Calderoni   +2 more
wiley   +1 more source

Marble Under a Strange Spell: St. John Rivers’ “Long-Cherished Scheme” to Wed Jane Eyre

open access: yesJournal of Popular Romance Studies, 2017
For most readers, the third volume of Charlotte Brontë’s Jane Eyre is the least gratifying of this great literary achievement of the Victorian era. Thornfield Hall and its passionate proprietor Edward Rochester are distant memories to “Jane Elliott” as ...
Michelle Thurlow
doaj  

Neither Black Enough nor White Enough: An Intersectional Perspective on the Lived Experiences of Colored Women Leaders in Postapartheid South Africa

open access: yesGender, Work &Organization, Volume 33, Issue 3, Page 858-869, May 2026.
ABSTRACT This article seeks to disrupt the undertheorization of Colored women's leadership experiences in gender transformation research. We refer specifically to women who self‐identify as Colored South African and consider themselves to be part of the South African Colored community.
Trudy Rhoda Forbay, Peliwe Pelisa Mnguni
wiley   +1 more source

Ancestral Irrigation and Women's Political Empowerment

open access: yesKyklos, Volume 79, Issue 2, Page 377-398, May 2026.
ABSTRACT This paper advances the hypothesis and establishes empirically that the adoption of irrigation agriculture during the preindustrial period is a predictor of contemporary cross‐country variation in women's political empowerment. Countries whose populations historically relied on irrigation agriculture as their primary subsistence mode tend to ...
Roberto Ezcurra
wiley   +1 more source

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