Results 151 to 160 of about 1,579,186 (275)

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

From orientation to integration: organizational leadership and mentorship for newly graduated nurses - a qualitative hermeneutic-phenomenological study. [PDF]

BMC Nurs
Henriksen J, Kristensen IV.
europepmc   +1 more source

Australian Practitioners' Beliefs, Confidence, and Training Needs for Delivering Behaviour Support to Children and Young People in Out‐of‐Home Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Children in out‐of‐home care (OOHC) frequently present with complex behavioural needs. In New South Wales (NSW), behaviour support plans (BSPs) are mandated when restrictive practices, including psychotropic medication, are used. Little research has examined whether the statutory workforce is adequately prepared to meet behaviour support ...
Manisha Abayakoon Stanborough, Kelly‐Ann Allen, Emily Berger, Mikaela Stanborough, Erin Leif   +4 more
wiley   +1 more source

Testing the reliability and validity of a newly graduated nurses' teaching experience scale. [PDF]

PLoS One
Doi T, Shimizu Y.
europepmc   +1 more source

A National Survey of Informal Supporters' Experiences and Views of Behaviour Support Practitioners in the National Disability Insurance Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study examines informal supporters' experiences and views of NDIS behaviour support practitioners, including engagement, information needed to support selection, and perceptions of practitioners' knowledge, skill, and practice. It reports data from a cross‐sectional online survey of 123 informal support providers of participants receiving
Alinka Fisher, David P. Nicoll, Irene Belperio, Maverick Clissold, Aiden Osborne, Russ Fox, Erin Leif, Keith McVilly   +7 more
wiley   +1 more source

Belonging to a Community-Newly Graduated Nurses' Lived Experiences of Participating in an Introduction Program: A Phenomenological Hermeneutical Study. [PDF]

Scand J Caring Sci
Kjellsdotter A, Sundberg F, Wills J, Berglund M.   +3 more
europepmc   +1 more source

Homogeneous PHB–SF Electrospun Scaffolds as an Alternative to Synthetic Mesh for Stress Urinary Incontinence

Advanced NanoBiomed Research, EarlyView.
Homogeneous polyhydroxybutyrate–silk fibroin electrospun scaffolds combine the favorable biological activity of silk fibroin with the mechanical strength of polyhydroxybutyrate. The resulting fibers support fibroblast attachment and organized extracellular matrix formation while providing tunable, tissue‐relevant mechanics, demonstrating a promising ...
Rebecca J. Thomson, Connor G. Basham, Iris Levey, Jonathan Shaw, Mickey V. Patel, Charles R. Wira, Katherine R. Hixon, Douglas W. Van Citters   +7 more
wiley   +1 more source

The Experiential Path of Exercising Clinical Nursing Leadership Among Newly Graduated Nurses: An Interpretative Descriptive Study.

Quality Advancement in Nursing Education, 2022
Sara Alami Hassani, Jacinthe I. Pepin
doaj   +1 more source

From Classroom to Clinic: A Qualitative Study on Newly Graduated Nurses' Transition to Practice. [PDF]

Curr Health Sci J
Jafarimanesh H, Zakerimoghadam M, Ghiyasvandian S.   +2 more
europepmc   +1 more source