Results 111 to 120 of about 396,418 (199)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Hybrid text mining models for investigative keyword expansion on child sexual abuse in the dark web. [PDF]

PLoS One
Kim JG, Kim J.
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Bibliometric Analysis of Research Hotspots and Emerging Trends in Mitochondrial DNA and Atherosclerosis (2004-2025). [PDF]

Cardiol Res Pract
Ouyang Y, Wang G, Zhang M, Min P, Guo M.
europepmc   +1 more source

The Legislation for Providing Animal Access in Australian Residential Aged Care: It's Not a Zoo

Australian Journal of Social Issues, EarlyView.
ABSTRACT Providing meaningful animal contact to residential aged care facility (RACF) residents is problematic due to a lack of animal policies and National Guidelines. This paper examines how Australian Legislation could influence access to animal contact in RACFs and aims to answer the question, ‘Could current Legislation facilitate the development ...
Wendy Newton, Tania Signal, Jenni A. Judd   +2 more
wiley   +1 more source

Research landscape, hotspots, and evolutionary trends of knee osteoarthritis and oxidative stress: a multidimensional bibliometric analysis. [PDF]

Front Med (Lausanne)
Zhang Y, Yang E, Lu R, Xie B, Du D, Xu Y.   +5 more
europepmc   +1 more source

Shifting Child Protection Assessments From a Deficit Focus to Assessments Informed by Strengths and Protective Factors: Translating Research Knowledge to Practice

Australian Journal of Social Issues, EarlyView.
ABSTRACT Child protection systems play a critical role in preventing and responding to child maltreatment, yet practices are often predominantly deficit focused. This paper presents a rapid literature review on the strengths, protective factors, and cultural considerations to inform child protection assessment.
Gabrielle R. Hunt, Carmela Bastian, Luke Cantley, Ulrike Marwitz, Daryl J. Higgins   +4 more
wiley   +1 more source

A computational case study of Günter Blobel's idea of protein topogenesis and its influence. [PDF]

Hist Philos Life Sci
Jinson ST, Maienschein J, Laubichler M.
europepmc   +1 more source

Correlation of Local Nasal Biomarkers and Olfactory Dysfunction in Chronic Rhinosinusitis: A Systematic Review and Meta‐Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background To systematically evaluate the local biomarkers correlated with olfactory dysfunction (OD) in chronic rhinosinusitis (CRS). Methods A systematic review was conducted in CINAHL, Cochrane Library, PubMed, and Scopus from inception to July 2025.
David Kayekjian, Neeti Gandra, Shaun A. Nguyen, Shaina W. Twardus, Rodney J. Schlosser   +4 more
wiley   +1 more source

Mining the Public Mind: A Text-Mining Approach to Dental Implants and Dentures. [PDF]

Dent J (Basel)
Kong HJ.
europepmc   +1 more source