Results 31 to 40 of about 28,149 (256)

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Australia's Migration Strategy: An Effective Response to Migrant Worker Exploitation?

Australian Journal of Social Issues, EarlyView.
ABSTRACT A series of publicised migrant worker injuries and deaths has drawn attention to the issue of migrant worker exploitation (MWE) in Australia. In response, the Australian Government has included ‘Tackling Worker Exploitation’ as a key area of its Migration Strategy which it introduced in 2023. However, it is unclear how effective the Strategy’s
Evelyn Dowling, Alexandra Ridgway
wiley   +1 more source

A National Survey of Informal Supporters' Experiences and Views of Behaviour Support Practitioners in the National Disability Insurance Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study examines informal supporters' experiences and views of NDIS behaviour support practitioners, including engagement, information needed to support selection, and perceptions of practitioners' knowledge, skill, and practice. It reports data from a cross‐sectional online survey of 123 informal support providers of participants receiving
Alinka Fisher, David P. Nicoll, Irene Belperio, Maverick Clissold, Aiden Osborne, Russ Fox, Erin Leif, Keith McVilly   +7 more
wiley   +1 more source

Cousin

Atoll Research Bulletin, 2002
(Uploaded by Plazi from the Biodiversity Heritage Library) No abstract provided.
Hill, Michael J., Vel, Terence M., Holm, Kathryn J., Parr, Steven J., Shah, Nirmal J.   +4 more
openaire   +3 more sources

Anatomy and variation in the paraphyletic Mosasaurus lemonnieri assemblage from the Craie phosphatée de ciply, Belgium

The Anatomical Record, EarlyView.
Abstract Nineteenth century excavations of the Ciply‐Malogne Phosphatic Chalk Formation in Hainaut, Belgium, yielded over 50 partial mosasaur skeletons, the majority of which were referred to the species Mosasaurus lemonnieri Dollo, 1889. In the years since, this taxon has experienced a complicated taxonomic history, and its exceptional hypodigm has ...
Henry S. Sharpe, Hallie P. Street‐Sampson, Takuya Konishi, Michael W. Caldwell   +3 more
wiley   +1 more source

Body donor programs in Australia and New Zealand: Current status and future opportunities

Anatomical Sciences Education, Volume 18, Issue 3, Page 301-328, March 2025.
Abstract Body donation is critical to anatomy study in Australia and New Zealand. Annually, more than 10,000 students, anatomists, researchers, and clinicians access tissue donated by local consented donors through university‐based body donation programs. However, little research has been published about their operations.
Rebekah A. Jenkin, Kevin A. Keay
wiley   +1 more source

HOW FREQUENT ARE CONSANGUINEOUS MARRIAGES?

Journal of the Dow University of Health Sciences, 2008
Objective: To determine the frequency of consanguineous marriages in parents and grand parents of alladmitted children in a pediatric unit Design: An observational study.
D. S. Akram, Fehmina Arif, Jabeen Fayyaz Fayyaz   +2 more
doaj   +4 more sources

Educational philosophising in the Everyday: UK immigrant mothers navigating identity and praxis during COVID‐19

British Educational Research Journal, EarlyView.
Abstract Debates surrounding motherhood have long centred on women's roles as carers. Although motherhood is now more widely recognised within feminist scholarship, it often remains conceptually separate from identities associated with formal educational discourse.
Lavinia Kamphausen, Aliya Khalid, Nadia Uddin‐Talukder, Uzma Dayan   +3 more
wiley   +1 more source

Hot and cold deserts as eco‐evolutionary arenas for understanding plant resistance to multiple abiotic stressors

Biological Reviews, EarlyView.
ABSTRACT During their long evolutionary history, land plants have evolved a range of adaptations to different abiotic stressors. These help explain present‐day diversity and distribution patterns, as well as the potential resilience of natural and agricultural systems to a changing climate. Most previous research has focused on adaptation to individual
Marc Fradera‐Soler, Natasha Barbolini, Anže Žerdoner Čalasan, Marian Schubert, Catarina Rydin, Olwen M. Grace, Aelys M. Humphreys   +6 more
wiley   +1 more source