Results 161 to 170 of about 14,573 (292)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Rehabilitation treatment specification system: latest tools, trials, and pathways to advance the science underlying voice therapy. [PDF]

Curr Opin Otolaryngol Head Neck Surg
Van Stan JH.
europepmc   +1 more source

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga, Jacey L. Anderberg, Ana M. Ramirez‐Diaz, Andrea Horvath Marques, Catherine E. Rast, Daniel Bustamante, Deborah Jonker, Johanna Valencia‐Echeverry, Joseph Kyebuzibwa, Josselyn S. Muñoz, Kristien van der Walt, Mauricio Castaño Ramirez, Olivia Wootton, Renee M. Frederick, Rocky E. Stroud II, Ruben Gur, Sang Jin Rhee, Shaili C. Jha, Stella Gichuru, Susan Service, Victor I. Reus, Akena Dickens, Carlos Lopez‐Jaramillo, Carrie E. Bearden, Dan J. Stein, Ezra S. Susser, James J. Crowley, Jonathan Flint, Kenneth S. Kendler, Lukoye Atwoli, Michele T. Pato, Nelson B. Freimer, Roel A. Ophoff, Yong Min Ahn, Loes Olde Loohuis, Eric A. Storch, Bizu Gelaye   +36 more
wiley   +1 more source

Palladium‐Doping‐Enabled Interface Synergy for Superb Ampere Level Ammonia Electrosynthesis From Nitrate

Angewandte Chemie, EarlyView.
Isolated Pd sites in a metallic Co matrix boost nitrate‐to‐ammonia conversion. Pd doping optimizes intermediate adsorption and reconstructs the interfacial microenvironment, promoting cation enrichment and a hydrogen‐down‐oriented water network. This dual modulation facilitates proton transfer and intermediate stabilization, enabling high ammonia ...
Qun He, Chuanqiang Wu, Zhangsheng Shi, Dongxue Yu, Wei Jiang, Li Song, Xin Wang   +6 more
wiley   +2 more sources

Treatable traits in cough: findings from patients with refractory chronic cough undergoing laryngoscopy. [PDF]

ERJ Open Res
Sutanto J, Butler J, Hunter C, Green E, Peace L, Green N, Fearby S, Parker S.   +7 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Strain Engineering via W–O–Ru Interfacial Coupling to Suppress Lattice Oxygen Activation for Stable Acidic Water Electrolysis

Angewandte Chemie, EarlyView.
Constructing atomically coupled W–O–Ru interfacial units on RuO2 triggers a dynamic strain evolution during the oxygen evolution reaction. An initial tensile strain secures structural stability, while a self‐adjusting transition to interfacial compression optimizes catalytic activity.
Yi Guan, Xiaozhang Yao, Ruiwen Qi, Xiangzhong Ren, Gaowa Liu, Zhongxin Song, Lei Zhang, Xueliang Sun   +7 more
wiley   +2 more sources

Atypical Bilateral and Unilateral Vocal Cord Paralysis in Two Neonates With Williams Syndrome. [PDF]

Case Rep Pediatr
Arya P, Hamrick MC, Mackowiak B, Buckler B, Haldeman-Englert C, Ambrose SE.   +5 more
europepmc   +1 more source

The Politics of Framing the Student Problem: Inquiries Into Australian Civics Education, 2006–2024

Australian Journal of Social Issues, EarlyView.
ABSTRACT Recurring debates about civics, the kinds of history that should, and should not, be taught in school, and ‘standards debates’ about the ‘basics’ typically follow on the heels of recurring moral panics about the ‘declining’ state of ‘our’ education system.
Patrick O'Keeffe, Judith Bessant, Madeline Drake   +2 more
wiley   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source