Results 121 to 130 of about 4,036,077 (340)

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe   +22 more
wiley   +1 more source

Peningkatan Menulis Narasi dari Teks Wawancara dengan Pembelajaran Kooperatif Tps Siswa SMP Pancasila [PDF]

open access: yes, 2016
..The background of this research is weak skills of students of class VII SMP Pancasila Sungai Kakap in writing narrative paragraphs from an interview text. Methods and forms of this research is qualitative descriptive.
Lasmono, D. (Djon)   +2 more
core  

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

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

open access: yesAmerican 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

Superannuation Reimagined: Moving Beyond the Origins to an Indigenous Focus

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Retirement income systems, such as superannuation, are meant to be non‐discriminatory and consider disadvantage faced by members of society. There are significant differences between the life expectancies of Indigenous and non‐Indigenous peoples. The gap in life expectancies is not considered when determining when Indigenous peoples can retire.
Levon Ellen Blue   +2 more
wiley   +1 more source

On the Issue of Future and Value of Empirical Sociology in Russia

open access: yesСоциологическая наука и социальная практика, 2014
The article raises such problems of the state of empirical sociology as professional qualification of the young generation of Russian sociologists, incompetent use of social study methods in related sciences, and public negative attitude of sociologists ...
Irina V. Popova
doaj  

Whose story is it anyway? The ethics of narration and the narration of ethics in Summertime and Die Sneeuslaper [PDF]

open access: yes, 2013
Includes bibliographical references.This dissertation analyses and compares the narrative strategies in J.M. Coetzee’s Summertime and Marlene van Niekerk’s Die sneeuslaper and considers the implications of these strategies for the authors’ exploration of
Holtzhausen, Janita
core  

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz   +7 more
wiley   +1 more source

The Shape of Things to Come. An Interview with Maria Mäkelä

open access: yesDiegesis: Interdisziplinäres E-Journal für Erzählforschung, 2021
In this interview, Maria Mäkelä provides her personal definition of narrative research, introduces her current research projects, and speculates about the future of narrative research.
Maria Mäkelä
doaj  

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