Results 231 to 240 of about 172,842 (307)

Effects of prematurity and socio‐economic status on early life language exposure: A video coding study

British Journal of Developmental Psychology, EarlyView.
Abstract Preterm birth is associated with later language impairment and delay. Socio‐economic deprivation is linked to decreased language exposure in early childhood, but it is unknown how prematurity influences this relationship. This study investigated the effects of socio‐economic status and gestational age at birth on language exposure, in a sample
Sinéad O'Carroll, Bethan Dean, Yu Wei Chua, Victoria Ledsham, James P. Boardman, Sue Fletcher‐Watson   +5 more
wiley   +1 more source

Erratum: Cardiological rehabilitation, prehabilitation, and cardiovascular prevention in adults with congenital heart defects: tasks and services of the German Pension Insurance-part 2: cardiological rehabilitation. [PDF]

Cardiovasc Diagn Ther
Editorial Office.
europepmc   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, EarlyView.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

Diagnostic Performance of Standardized First Trimester Fetal Echocardiography for the Detection of Congenital Heart Defects. [PDF]

J Clin Ultrasound
Akalın M, Akalın EE, Kara M, Büyükbayrak EE.   +3 more
europepmc   +1 more source

Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion

Clinical Endocrinology, EarlyView.
ABSTRACT Context Placental calcium (Ca2+) transport is essential for foetal bone mineralisation and development, as well as for Ca2+ homoeostasis. Rare mutations in transient receptor potential vanilloid (TRPV) 6 of the infant cause insufficient maternal‐foetal Ca2+ transport through the placenta.
Teodora Grigore, Quinty Leusink, Femke Latta, Bram van der Eerden, Paul de Laat, Danielle van der Kaay, Joost Hoenderop   +6 more
wiley   +1 more source

Congenital Heart Defects and Apgar Score at Birth, a Nationwide Study. [PDF]

J Am Heart Assoc
Ravichandran B, Henriksen TB, Hjortdal VE, Ostergaard JR, Matthiesen NB.   +4 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Pulse Oximetry Screening for Critical Congenital Heart Defects: Effectiveness and Implementation across Clinical Settings. [PDF]

Cardiol Cardiovasc Med
Gurumurthy G, Agrawal DK.
europepmc   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Ventricular Topology in Congenital Heart Defects Associated with Heterotaxy: Can We Find Patterns Reflecting the Syndrome-Specific Tendency for Visceral Symmetry? [PDF]

J Cardiovasc Dev Dis
Othman T, Alsaiad AMA, Jijeh AMZ, Männer J, Yelbuz TM.   +4 more
europepmc   +1 more source