Results 141 to 150 of about 133,828,335 (285)
Reconciling Children’s Best Interests and Right to be Heard
Abstract This article explores the tension between the child’s best interests principle and children’s participation and examines the inherent challenges and different approaches to reconcile the dilemma in law and practice: how can children’s best interests be reconciled with their right to be heard?
openaire +2 more sources
Abstract Technical Assistance (TA) is an essential strategy for supporting organizational growth and aiding implementation of evidence‐based interventions in mission‐driven sectors, including education. While TA is crucial for addressing challenges and improving performance, the field has limited consensus on key features and best practices ...
Sarah M. Stilwell +7 more
wiley +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Across Borders - A comparative legal study on preventive protection orders in cases of forced marriage, transnational abandonment and female genital mutilation [PDF]
Rechtsvergelijkend onderzoek uitgevoerd naar de inzet van preventieve beschermingsbevelen bij huwelijksdwang, achterlating en vrouwelijke genitale verminking (VGV). Het onderzoek werd uitgevoerd in de periode oktober 2024 tot mei 2025.
Middelburg, A., Laake, C. van
core +1 more source
Stimulation of Right Temporal Cortex Enhances Talker Typicality Judgments. [PDF]
Luthra S +4 more
europepmc +1 more source
Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan +5 more
wiley +1 more source
Distinguishing Between Innocent and Pathologic Pediatric Heart Murmurs: A Case Report. [PDF]
Thomas KI.
europepmc +1 more source
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source

