Results 11 to 20 of about 117,562 (259)

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome. [PDF]

Ann Clin Transl Neurol, 2023
Abstract Objective The goal of this study is to demonstrate the utility of a growth assay to quantify the functional impact of single nucleotide variants (SNVs) in SLC2A1, the gene responsible for Glut1DS. Methods The functional impact of 40 SNVs in SLC2A1 was quantitatively determined in HAP1 cells in which SLC2A1 is required for growth.
Tayebi N, Leon-Ricardo B, McCall K, Mehinovic E, Engelstad K, Huynh V, Turner TN, Weisenberg J, Thio LL, Hruz P, Williams RSB, De Vivo DC, Petit V, Haller G, Gurnett CA.   +14 more
europepmc   +2 more sources

Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification. [PDF]

Ann Clin Transl Neurol, 2023
Abstract We sought to devise a rational, systematic approach for defining/grouping survival motor neuron‐targeted disease‐modifying treatment (DMT) scenarios. The proposed classification is primarily based on a two‐part differentiation: initial DMT, and persistence/discontinuation of subsequent DMT(s).
Proud CM, Mercuri E, Finkel RS, Kirschner J, De Vivo DC, Muntoni F, Saito K, Tizzano EF, Desguerre I, Quijano-Roy S, Benguerba K, Raju D, Faulkner E, Servais L.   +13 more
europepmc   +2 more sources

Addressing exploitation and inequities in open science: A relational perspective

Developing World Bioethics, Volume 23, Issue 4, Page 331-343, December 2023., 2023
Abstract There are concerns that participation in open science will lead to various forms of exploitation – of researchers and scholars in low‐income countries and under‐resourced institutions. This article defends a contrary thesis and demonstrates the exact ways the underexplored notions of communal relationships, human dignity and social justice ...
Cornelius Ewuoso, Luís Cordeiro‐Rodrigues, Ambroise Wonkam, Jantina de Vries   +3 more
wiley   +1 more source

METAFORA DAN FUNGSI PAPPASENG MASYARAKAT BUGIS DI KABUPATEN SIDENRENG RAPPANG

SENTRI: Jurnal Riset Ilmiah, 2023
Beberapa penelitian menunjukkan bahwa pappaseng adalah pesan yang memiliki fungsi dalam kehidupan masyarakat Bugis. Itulah sebabnya, seringkali dalam pappaseng ditemukan metafora yang bertujuan untuk mempertegas pesan yang ingin disampaikan.
Hasmawati Su, Gusnawaty Gusnawaty, Ikhwan M. Said   +2 more
semanticscholar   +1 more source

La metafora: the power of metaphors and creative resources in working systemically with families and children with autism—a conversation with Carmine Saccu

Australian and New Zealand Journal of Family Therapy, Volume 44, Issue 3, Page 393-403, September 2023., 2023
Abstract Metaphors are valuable tools of expression, which give meaning to situations and allow the spontaneous processing of feelings and emotions. As therapists, we can support clients to develop and create their individual metaphor to explain their own meaning of experiences or communicate their perception of problems.
Deisy Amorin‐Woods, Carmine Saccu
wiley   +1 more source

Tubuh Perempuan dalam Metafora pada Kumpulan Puisi Pandora Karya Oka Rusmini: Kajian Stilistika

Ilmu budaya : jurnal bahasa, sastra, seni, dan budaya, 2023
Penelitian ini bertujuan untuk menguraikan bentuk metafora tubuh dan juga menguraikan fungsi puitik metafora tubuh yang terdapat di dalam puisi “Pandora” karya Oka Rusmini.
Esty Pratiwi Lubarman, Dahri Dahlan, Kiftiawati Kiftiawati   +2 more
semanticscholar   +1 more source

Strategic generosity among local patrons: Place belonging and ethnic exclusion in a transforming lower‐income neighborhood of Tel Aviv

American Anthropologist, Volume 125, Issue 3, Page 570-581, September 2023., 2023
Abstract Working at the intersection of exchange theory, urban anthropology, and ethnic and racial studies, this article offers an original perspective on the role of local patrons’ exchange networks in constructing place belonging during racial urban change.
Tal Shamur
wiley   +1 more source

Metafory w praktyce dydaktycznej (i badawczej). Jak obrazowo uczyć badań jakościowych?

Przeglad Socjologii Jakosciowej, 2022
Celem artykułu jest przedstawienie potencjału metafor i możliwości ich stosowania w nauczaniu metodologii badań jakościowych. Rozpoczynając od przeglądu najważniejszych dokonań w zakresie wykorzystywania metafor jako przedmiotu poznania i narzędzia ...
Łukasz Marciniak
doaj   +1 more source

KAJIAN METAFORA DAN METONIMI PADA IKLAN GUDANG GARAM “NYALAKAN MERAHMU”

JURNAL KONFIKS, 2023
Kajian metafora dan metonimi dalam perluasan iklan Gudang Garam baik secara visual dan verbal menyampaikan berbagai pemahaman. Penelitian difokuskan pada penggunaan metaforisasi dan metonimisasi dalam iklan Gudang Garam. Dalam iklan Gudang Garam tersebut
Usman Sidabutar, M. Mulyadi
semanticscholar   +1 more source

Framing the benefits of European Union policy expansion on energy efficiency of buildings: A Swiss knife or a Trojan horse

European Policy Analysis, Volume 9, Issue 3, Page 219-243, Summer 2023., 2023
Abstract This paper analyzes through qualitative and quantitative analysis of European Union (EU) policy documents the framing of EU policy on energy‐efficient buildings from the 1970s to 2022. We find that it has been framed in different ways over the decades and the framing has expanded to include more and more benefits.
Fredrik von Malmborg, Martin Björklund, Johan Nordensvärd   +2 more
wiley   +1 more source