Results 31 to 40 of about 44,922 (291)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

How culture shapes the sexual and reproductive health practices among adolescent girls in Eastern Equatoria, South Sudan [PDF]

, 2018
Background: From 2011 to 2014, a programme aimed to improve sexual and reproductive health practices among adolescent girls was implemented by the non-governmental organization BRAC in partnership with the Government of South Sudan and with funding from ...
Kevin McKague, Reajul Chowdhury, Chowdhury, Reajul, McKague, Kevin   +3 more
core   +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

South Sudan [PDF]

IMF Staff Country Reports, 2019
While the peace agreement signed in September 2018 has improved the prospects for lasting peace in South Sudan, the implementation of the agreement has become more protracted than envisaged with the recently announced six-month delay in forming a new national unity government.
  +5 more sources

Historical birth records from 1896 to 1944 from the Basel maternity hospital, Switzerland, reveal significant obstetric selection pressures

The Anatomical Record, EarlyView.
Abstract Maternal and neonatal morbidity and mortality have declined dramatically during the last century. Historical data are therefore important sources to study the evolutionary selection pressures related to childbirth and how they have fluctuated over time.
Mirella Woodert, Guillermo Bravo Morante, Viktoria A. Krenn, Cédric Cordey, Nicole Torres‐Tamayo, Kaspar Staub, Nicole M. Webb, Martin Haeusler   +7 more
wiley   +1 more source

Using GIS to Analyze a Conflict Area: The Example of the Armed Conflict in South Sudan after the Declaration of Independence (2011–2022)

Историко-географический журнал
The purpose of the study is to highlight the key factors that explain the nature and causes of permanent interreligious and interethnic conflicts in South Sudan in 2011–2022 and using them to classify the territories of South Sudan according to conflict ...
M. S. Baklykov
doaj   +1 more source

Integrating One Health to Mitigate the Emergence and Spread of Antimicrobial Resistance in Livestock and Aquaculture

Animal Research and One Health, EarlyView.
Antimicrobial resistance (AMR) is an escalating global threat driven by antimicrobial use in aquaculture and livestock. Resistant pathogens and genes can spread across humans, animals, and the environment through interconnected ecosystems. Using a One Health approach, this review emphasizes antimicrobial stewardship, regulatory strengthening, enhanced ...
Mir Mohammad Ali, Delower Hossain, Ridwan Olamilekan Adesola, Anum Hanif, Shamsaldeen Ibrahim Saeed, Muhammad Abdul Mannan, Anoar Jamai Masroure, Kazi Estieque Alam, Md Kamal Hossain, Sabiha Zarin Tasnim Bristi, Md Jisan Ahmed   +10 more
wiley   +1 more source

Evaluation of the educational policies of the Sudan, 1972-1992 : impact and implications on educational development in the Southern Sudan [PDF]

, 1996
The education policy development in the Sudan should be understood within the context of Islamic general policy orientation and the specific goals and aims of education as perceived by the national policy-makers in the Central Government.
Beninyo, Ben Katoro
core  

Digital Transformation and Informal Innovation in Africa: Reframing STI Policy for Inclusive Circular Economy Transitions

Business Strategy and the Environment, EarlyView.
ABSTRACT Amid increasing environmental and economic pressures, Africa's transition to a circular economy (CE) presents a vital pathway to inclusive, low‐carbon development. Yet, how digital transformation, informal innovation, and science, technology, and innovation (STI) policy readiness shape CE outcomes remains underexplored.
Emmanuel K. Manu, Isaiah Nketiah, Simplice A. Asongu   +2 more
wiley   +1 more source

Ticks infesting animals in the Sudan and southern Sudan: Past and current status

Onderstepoort Journal of Veterinary Research, 2012
In this review, we collate information about ticks identified in different parts of the Sudan and South Sudan since 1956 in order to identify gaps in tick prevalence and create a map of tick distribution. This will avail basic data for further research
Ahmed A. ElGhali, Shawgi M. Hassan
doaj