Results 211 to 220 of about 3,218,765 (274)

Mutational spectrum of SLC26A4 and SLC26A5 associated with hereditary hearing loss in Moroccan families. [PDF]

Hum Genomics
Idyahia A, Redouane S, Chentoufi FE, Charoute H, El Hamouchi A, Benrahma H, Barakat A.   +6 more
europepmc   +1 more source

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

Clinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob, Susann Badmann, Stefania Bigoni, Maria Iascone, Ilaria Vivaldi, Katharina Mayerhanser, Robert Kopajtich, Holger Prokisch, Cristina Forest, Sebastian Eck, Michael Zech, Elisabeth Graf, Matias Wagner, Juliane Winkelmann, Theresa Brunet, Melanie Brugger   +15 more
wiley   +1 more source

Tinnitus Phenotypes and Their Response to the Enriched Acoustic Environment (EAE) Treatment. [PDF]

Brain Sci
Bouzou C, Fernández-Ledesma M, Cuesta M, Cobo P.   +3 more
europepmc   +1 more source

‘Do You Realise People Are Dying There?!’: Ukrainian Adolescents Reflecting on Death During Wartime

Children &Society, EarlyView.
ABSTRACT This article explores how Ukrainian refugee adolescents in Romania think and speak about death and loss amid war and displacement. While contemporary Western societies display an unprecedented visibility of death, they continue to exclude children from genuine conversations about mortality, maintaining a protective silence.
Adriana Teodorescu, Alina Bărbuță
wiley   +1 more source

Death, Killing, and the Enemy: Jewish and Arab Children's Perspectives During the War and Their Evacuation From Home

Children &Society, EarlyView.
ABSTRACT This study examines how 57 Jewish and Arab children (aged 4–8), displaced from their homes during the 2023–2024 Israel–Hezbollah war, interpret war and articulate moral reasoning. Using a qualitative design and reflexive thematic analysis, the study draws on children's accounts generated through card‐based interviews addressing war ...
Or Perah Midbar Alter, Ibtisam Marey‐Sarwan   +1 more
wiley   +1 more source

Baseline Differences in Cochlear Implant Candidates: Bilateral Traditional vs. Expanded Indications. [PDF]

J Clin Med
Lin JY, Thornton ALS, Wilson ML, Spector BM, Tamati TN, Moberly AC.   +5 more
europepmc   +1 more source

Structured decision‐making as a framework to incorporate social equity into conservation decisions

Conservation Biology, EarlyView.
Abstract Many conservation challenges require negotiating trade‐offs between the needs of different actors. Global frameworks such as the Kunming–Montreal Global Biodiversity Framework explicitly call for diverse participation and social equity in conservation decision‐making.
Emily Massingham, Angela J. Dean, Hugh P. Possingham   +2 more
wiley   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome. [PDF]

Mol Genet Genomic Med
Fan F, Chen Y, Zhang T, Ma J.
europepmc   +1 more source