Results 231 to 240 of about 365,870 (389)

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, EarlyView.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

Communication is the key : a good practice survey of services for deaf children [PDF]

, 2012

core  

Case Report: Dominant deafness-onychodystrophy syndrome and hypokalemic periodic paralysis in a single patient: a rare syndromic overlap. [PDF]

Front Pediatr
Luo DL, Liu RP, Hou XY, Liu Z, Lu B.
europepmc   +1 more source

A Case of Aortitis Syndrome Presenting Bilateral Sudden Deafness. Complicated with Multiple Intracranial Aneurysm.

, 1999
Young Soon Kim, Akinori Itoh, Masahiro Mizuno   +2 more
openalex   +2 more sources

Reading and relating with Frieda Fromm‐Reichmann and Joanne Greenberg

Critical Quarterly, EarlyView.
Joshua Pugh
wiley   +1 more source

Continuous Feedback for Data‐Driven Organisational Change: Implementing OTTO's Digital Heartbeat

Information Systems Journal, EarlyView.
ABSTRACT Organisations implementing change initiatives routinely fail to maintain alignment between strategic intent and daily operations, detect emerging issues early or build sustainable data habits for continuous improvement. This paper examines how organisations can address these challenges through high frequency, data‐driven feedback systems that ...
Benjamin van Giffen, Michael Müller‐Wünsch, Yves Stalgies, Joe Peppard, Walter Brenner   +4 more
wiley   +1 more source

Developing early intervention/support services for deaf children and their families [PDF]

, 2002

core  

Efficacy and safety of acupuncture treatment for idiopathic deafness: a retrospective study. [PDF]

Front Neurol
Wen CL, Zhang YK, Zhang M, Song LJ, Zhu LQ, Zhang FP.   +5 more
europepmc   +1 more source

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

Human Molecular Genetics, 1997
F. Denoyelle, D. Weil, M. Maw, S. Wilcox, N. Lench, D. R. Allen-Powell, A. H. Osborn, H. Dahl, A. Middleton, M. Houseman, C. Dodé, S. Marlin, Amel Boulila-Elgaied, Mohammed Grati, H. Ayadi, Saida Benarab, P. Bitoun, G. Lina-Granade, J. Godet, M. Mustapha, J. Loiselet, Elie El-Zir, Anne Aubois, A. Joannard, J. Levilliers, E. Garabédian, R. Mueller, R. Gardner, C. Petit   +28 more
semanticscholar   +1 more source

An assistive technology based on peircean semiotics for inclusive for education of deaf and listener children

, 2016
Denys Rocha
openalex   +1 more source