Results 171 to 180 of about 18,112 (283)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 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

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

Bottom‐Up Coacervate‐Based Artificial Cells: Integrating Cellular Hallmarks into Complex Life‐Like Systems

open access: yesAngewandte Chemie, EarlyView.
Current interest in artificial cell research underscores its potential to deepen our understanding of life's fundamental processes. This review highlights advances in bottom‐up coacervate‐based artificial cell engineering via combined integration of cellular hallmarks.
Arjan Hazegh Nikroo   +3 more
wiley   +2 more sources

Confessions of a Poverty Researcher: My Journey Through the Foothills of Scholarship

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper describes the key events, experiences and ideas that influenced the author's career as a poverty researcher. He describes how his early disillusion with economics was replaced by a spark of interest in social issues and how his migration from the UK to Australia in the mid‐1970s provided the impetus to begin what became a lifetime ...
Peter Saunders
wiley   +1 more source

Convergent Valorization via Scalable C═N Bond Electrosynthesis Through Metal‐Dopant Interfacial Engineering in a Flow Electrolyzer

open access: yesAngewandte Chemie, EarlyView.
This study establishes an innovative approach to synthesize organonitrogens featuring C═N bonds efficiently using non‐precious metal‐doped MoS2 in a flow electrolyzer. Fe dopant significantly enhances Faradaic efficiency and yield rate, achieving over 81% and 2630 mmol h−1 g−1 for formaldoxime production. This platform upcycles pollutants into valuable
Ruijie Yi   +9 more
wiley   +2 more sources

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