Results 221 to 230 of about 534,959 (308)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

India's death toll in 2021 during the COVID-19 pandemic: insights from delayed official civil registration data. [PDF]

J Glob Health
Salvatore M, Wahl B, Mukherjee B.
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Augmented intelligence in "robotic" liver surgery: Integrating augmented reality and artificial intelligence for real-time navigation and margin precision. [PDF]

World J Gastrointest Surg
Rozani S.
europepmc   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Impact of an enhanced sobriety checkpoints programme and publicity campaign on motor vehicle collisions, injuries and deaths in Leon, MX: a synthetic control study. [PDF]

Inj Prev
Quistberg DA, Perez-Ferrer C, Bilal U, Rodriguez Hernandez JL, Ramírez-Toscano Y, Cardenas Cardenas LM, Junquera-Badilla I, Yamada G, Barrientos-Gutierrez T, Diez Roux AV.   +9 more
europepmc   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source

How Do I Answer This? A Queer Critique of Australian Census Forms and the Reification of Cisheteronormative Families

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper presents a critical examination of Australia's 2021 household, individual and interviewer census forms. Using a form‐led analysis, this research scrutinises the underlying cisheteronormative logic that implicitly shapes the Census process, from data collection to distribution of findings.
Xavier Mills, Sal Clark
wiley   +1 more source

Remote Monitoring With a Reusable Device Upon Implementation on a Surgical Department (REQUEST Trial). [PDF]

World J Surg
Jerry EE, Bouwman ARA, van Esch EMG, Richardson R, Nienhuijs SW.   +4 more
europepmc   +1 more source

Sitting in Many Camps—Innovative Approaches and Methods for First Nations‐Led Research Into Indigenous Peacebuilding

Australian Journal of Social Issues, EarlyView.
ABSTRACT In 2021, a desktop review was conducted of published references to First Nations peoples' approaches to conflict and its management in Australia (Project Stage One), culminating in a report published in 2024. This article focuses on Project Stage Two, a complex, innovative research undertaking building on the findings of Stage One, and being ...
Helen Bishop, Alysoun Boyle, Tania Sourdin, Bin Li   +3 more
wiley   +1 more source