Results 121 to 130 of about 138,146 (291)
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
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT In this paper, we trace the journey to create the Strong Roots for our Futures Program, a government program to resource and support Traditional Owners to undertake a range of activities in areas where no state recognition existed. We provide a background to state recognition in Victoria before considering the program design, leading to an ...
Nell Reidy +2 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT This article reflects on the construction of a supportive community of Black Afro‐diasporic graduate students and their supervisors researching issues relating to race in the field of education in Australia. It draws on the concept of marronage—a term rooted in the fugitive act of becoming a maroon, where enslaved people enacted an escape in ...
Hellen Magoi +6 more
wiley +1 more source
Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia
American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley +1 more source
On the Prospects for African Philosophy in Australia
Australian Journal of Social Issues, EarlyView.ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley +1 more source
IIC - International Review of Intellectual Property and Competition Law, 2013 openaire +1 more source
Legalized Injustice in Indonesia: Violation of the Defendant's Right to be Heard Last at Trial
Procedural injustice in criminal trials in Indonesia is an important concern, especially regarding violations of the defendant's right to be heard last in the process of objecting to an indictment.
Rafi, Muhammad +5 more
core +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT This paper applies Critical Race Theory (CRT) to explore how whiteness operates within Australia's anti‐racism movement as a structuring force that shapes discourse, practice and policy. Despite the anti‐racism movement offering crucial spaces for resistance and reform, it remains entangled in Australia's settler‐colonial present and systemic ...
Franka Vaughan, Aish Ravi
wiley +1 more source