Results 91 to 100 of about 14,680 (246)

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

The acoustic contrast between the Dutch consonants /t/ and /d/ is reduced in tracheoesophageal speech

, 2019
The purpose of this study is to describe the acoustic changes of the consonants /t/ and /d/ in Dutch speaking individuals before and after total laryngectomy. The speech of seventeen participants was recorded before and after treatment. Eighteen tokens from a read-aloud text were obtained with /t/ or /d/ in initial position.
van Sluis, K., Kapitein, M., van Son, R., Boersma, P.   +3 more
openaire   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Construction and evaluation of measures of identification of sound elements in words in kindergarten, [PDF]

, 1953
Thesis (M.A.)--Boston ...
Hurvitz, Hazel E, Kavanagh, Theresa F.,joint author.   +1 more
core   +1 more source

Beyond Robodebt: Media Representations of Welfare and Fraud Before and After the Robodebt Royal Commission

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's Robodebt scheme, an automated debt recovery program introduced in 2016, was exposed by the Robodebt Royal Commission (RC) as a serious failure of public administration and source of significant harm for thousands of Australians. Through a critical discourse analysis (CDA) of Australian news media, this study explores whether the RC'
Rebecca Coleman‐Hicks, Georgia van Toorn   +1 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

Aneurysm Wall Enhancement and Probability of Instability in Unruptured Intracranial Aneurysms: A Long‐Term Follow‐Up Study

Annals of Neurology, EarlyView.
Objective Aneurysm wall enhancement (AWE) may predict aneurysm growth and rupture in the short‐term, but there is a lack of long‐term follow‐up studies. We aimed to determine whether unruptured intracranial aneurysms (UIAs) with AWE have a higher probability of aneurysm instability during long‐term follow‐up compared with those without AWE. Methods For
Laura T. van der Kamp, Maarten J. Kamphuis, Olivier Naggara, Thomas Le Tat, Gabriel J. E. Rinkel, Gérard A. P. de Kort, Ruben P. A. van Eijk, Jeroen Hendrikse, Irene C. van der Schaaf, Mervyn D. I. Vergouwen   +9 more
wiley   +1 more source

Human Brain Contusions Contain Pathogenic Transmissible Species that Induce Progressive Cognitive Decline and Tau Pathology in Mice

Annals of Neurology, EarlyView.
Objective Traumatic brain injury (TBI) is an established risk factor for dementia, although the underlying mechanisms remain unclear. Our previous research demonstrated that a single severe TBI in wild‐type (WT) mice induces a prion‐like form of tau (tauTBI) that spreads throughout the brain, leading to memory deficits.
Gloria Vegliante, Francesca Pischiutta, Elena Restelli, Federico Moro, Maria Antonietta Chiaravalloti, Ilaria Raimondi, Ilaria Bertani, Ilaria Lisi, Eliana Sammali, Rosaria Pascente, Serena Scozzari, Laura Pasetto, Carly Douglas, Marco Locatelli, Fabrizio Ortolano, Valentina Bonetto, David J. Loane, Nino Stocchetti, Roberto Chiesa, Elisa R. Zanier   +19 more
wiley   +1 more source

A Growth Chart for KBG Syndrome

American Journal of Medical Genetics Part A, EarlyView.
Karen J. Low, Elena Martinez‐Cayuelas, Berta Almoguera, Purin Marin‐Reina, Allan Bayat, Charlotte W. Ockeloen, Tim J. Cole   +6 more
wiley   +1 more source

Effect of Temperature and Atmosphere on Agglomeration of Bed Particles in a Bubbling Fluidised Bed Burning Na‐Enriched Coal

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Agglomeration of bed materials during circulating fluidised bed (CFB) combustion or gasification of high‐alkali fuel is a practical challenge in industrial practice. This work investigates experimentally the effect of temperatures (700°C–900°C) and atmosphere (air equivalence ratios 1.61–0.53) on agglomeration in a lab‐scale bubbling fluidised
Zipeng Guo, Jianbo Li, Xiaofei Long, Quanhai Wang, Xiaofeng Lu   +4 more
wiley   +1 more source