Results 61 to 70 of about 1,356 (221)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

The effect of learner corpus size in grammatical error correction of ESL writings

, 2012
English as a Second Language (ESL) learners ’ writings contain various grammatical errors. Pre-vious research on automatic error correction for ESL learners ’ grammatical errors deals with re-stricted types of learners ’ errors.
Tomoya Mizumoto, Mamoru Komachi, Yu Matsumoto, Yuta Hayashibe, Masaaki Nagata   +4 more
core  

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

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, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Production of 3D printed biomodels of the canine brain for veterinary neuroanatomy teaching

Anatomical Sciences Education, EarlyView.
Abstract Teaching neuroanatomy presents multiple challenges to both students and teachers, as it is a subject with highly dense content that commonly causes the development of aversion by students, a phenomenon referred to as “neurophobia,” which has been documented in human and veterinary medicine students.
João Victor Barbosa Tenório Fireman, Antônio Chaves de Assis Neto   +1 more
wiley   +1 more source

Developing a critical caste analysis within information science and technology: A research review: An annual review of information science and technology paper

Journal of the Association for Information Science and Technology, EarlyView.
Abstract Caste—an ascriptive social hierarchy in South Asia and its diaspora—is a globalized phenomenon. Recent caste‐based discrimination, particularly in technology companies and anti‐caste efforts to address it, has compelled academia, policy, and the technology industry to better understand contemporary mechanics of caste.
Nayana Kirasur, Britt Paris
wiley   +1 more source

Delineating gender/sex‐related studies through bibliometric analysis

Journal of the Association for Information Science and Technology, EarlyView.
Abstract The multidisciplinary and socially grounded nature of Women's/Gender/Feminist Studies poses unique challenges for bibliometric analysis, as it extends beyond conventional disciplinary boundaries. This paper makes three key contributions: (1) We propose a novel retrieval method for constructing a corpus of scholarly documents in research areas ...
Natsumi S. Shokida, Diego Kozlowski, Vincent Larivière   +2 more
wiley   +1 more source

Affective dimensions in the information behavior of forcibly displaced people: A literature review. An Annual Review of Information Science and Technology (ARIST) paper

Journal of the Association for Information Science and Technology, EarlyView.
Abstract This review analyzed 241 scholarly articles published between 2010 and 2025 in information science venues to examine how affect shapes refugees' information behavior during forced migration and to identify additional contextual factors. It identifies seven affective dimensions: anxiety, shame and stigma, grief and loss, frustration, (mis)trust,
Maja Krtalić, Lilach Alon
wiley   +1 more source

Science teachers' sense of compassion fatigue throughout the school year following Hurricane Harvey

, 2022
A Dissertation Submitted in Partial Fulfillment of the Requirements for the Degree of DOCTOR of PHILOSOPHY in CURRICULUM AND INSTRUCTION from Texas A&M University-Corpus Christi in Corpus Christi, Texas.Natural disasters such as Hurricane Harvey ...
Crysup, Kathrine Anne
core  

Potential contribution of biomass gasification‐based technology in energy transition: a technical review coupled with bibliometric studies

Biofuels, Bioproducts and Biorefining, EarlyView.
Abstract Biomass gasification technology has been extensively researched around the world; however, there is a need to evaluate the current research landscape and evolutionary direction of research in the broader context of energy transition. A systematic bibliometric analysis of the Web of Science database was performed for articles that fall within ...
Olasunkanmi Opeoluwa Adeoye, Electo Eduardo Silva Lora, Rubenildo Vieira Andrade, Leonardo Peña Pupo, René Lesme Jaén, Osvaldo José Venturini   +5 more
wiley   +1 more source