Results 111 to 120 of about 699 (280)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Project Beehive::A Hardware/Software Co-designed Stack for Runtime and Architectural Research

, 2015
The end of Dennard scaling combined with stagnation in architectural and compiler optimizations makes it challenging to achieve significant performance deltas.
Clarkson, James, Navaridas Palma, Javier, Goodacre, John, Lujan, Mikel, Cakmakci, Yaman, Kotselidis, Christos; id_orcid, Rodchenko, Andrey, Mawer, John, D'Antras, Amanieu, Nisbet, Andy, Gorgovan, Cosmin, Garside, James; id_orcid, Toms, Will, Werner, Sebastian, Pop, Antoniu, Barrett, Colin, Stratikopoulos, Thanos   +16 more
core   +1 more source

Effectively Exploiting Indirect Jumps

, 1999
This paper describes a general code-improving transformation that can coalesce conditional branches into an indirect jump from a table. Applying this transformation allows an optimizer to exploit indirect jumps for many other coalescing opportunities ...
David B. Whalley, Gang-ryung Uh
core  

National and International Monitoring of Student Literacy and Numeracy Attainment: The Case for Rigorous Macro and Micro Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT In her 2024 paper Are Australian students' academic skills declining? Interrogating 25 years of national and international standardised assessment data, Larsen compiled an impressive summary of major international (PISA, PIRLS and TIMSS) and national (NAPLAN) standardised assessments pertaining to literacy and numeracy.
Pamela C. Snow, Tanya A. Serry, Jennifer Buckingham, Lorraine S. Hammond, Stephen Dinham, Eamon Charles, Tessa A. Weadman, Nathanial R. Swain, Susan Hiland, Tessa Daffern   +9 more
wiley   +1 more source

Relation Algebra as programming language using the Ampersand compiler

Journal of Logical and Algebraic Methods in Programming, 2018
zbMATH Open Web Interface contents unavailable due to conflicting licenses.
openaire   +3 more sources

Expectations and Reality: The Lived Experiences of Australians With Psychosocial Disability Within the NDIS

Australian Journal of Social Issues, EarlyView.
ABSTRACT While Australia's National Disability Insurance Scheme (NDIS) was founded on principles of choice and control, for people with significant mental health challenges (what the NDIS calls ‘psychosocial disability’) these ideals often remain elusive. Support systems continue to be fractured and in the context of ongoing policy reforms, it is vital
Joel Hollier, Jennifer Smith‐Merry
wiley   +1 more source

To What Extent Do Australian Government Metrics Align With Indigenous and Non‐Indigenous Conceptualisations of Wellbeing? A Scoping Review of Wellbeing Frameworks

Australian Journal of Social Issues, EarlyView.
ABSTRACT Indigenous wellbeing theories offer potential to better measure social and cultural determinants. This scoping review aimed to identify the types of metrics used by the Australian government to assess wellbeing and evaluate the alignment of current frameworks against Indigenous and non‐Indigenous conceptualisations of wellbeing.
Sophie Wright‐Pedersen, Edward J. O'Connor, Megan Rebuli, Tiana Thorne, Naomi Kakoschke, Ray Mahoney   +5 more
wiley   +1 more source

Discrete mathematics with applications

, 2003
This approachable text studies discrete objects and the relationsips that bind them. It helps students understand and apply the power of discrete math to digital computer systems and other modern applications.
Koshy, Thomas
core  

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

A new Patient‐Reported Outcome Scale to assess autoimmune Encephalitis: PROSE

Annals of Neurology, EarlyView.
Objective Autoimmune encephalitis (AIE) has long‐lasting effects. Generic clinical assessment‐scales insufficiently capture disease‐specific sequelae. Patient‐reported outcome measures (PROMs) assess outcomes important to patients, ensuring relevance in the clinic and trials.
Juliette Brenner, Yvette S. Crijnen, Ilse Kulderij, Sammy H.C. Olijslagers, Cinthia J. Ruhe, Anke A.G. Tolido, Laura P. Kersten, Julia C.P. Verkoelen, Chelsey N. Kret, Brigit Thomassen, Finn I. van Wijnen, Juna M. de Vries, Tessa M. Bienfait, Tessa Brand, Jeroen Kerstens, Robin W. van Steenhoven, Anna E. M. Bastiaansen, Marienke A.A.M. de Bruijn, Agnes van Sonderen, Sharon Veenbergen, Ava Easton, Peter A. E. Sillevis Smitt, Esther van den Berg, Melissa Mandarakas Mandarakas, Maarten J. Titulaer   +24 more
wiley   +1 more source