Results 241 to 250 of about 45,868 (295)

Parents' experiences of the financial and employment impacts of their child receiving end-of-life care: a national qualitative study. [PDF]

open access: yesBMC Palliat Care
Barrett L   +17 more
europepmc   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

open access: yesClinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata   +3 more
wiley   +1 more source

Right medial temporal lobe mass in a 25‐year‐old male

open access: yes
Brain Pathology, EarlyView.
Jorge Samanamud   +10 more
wiley   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

open access: yesClinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen   +5 more
wiley   +1 more source

Understanding Fathers Engagement: Contextual Insights From Tajikistan and Azerbaijan

open access: yesChildren &Society, EarlyView.
ABSTRACT Research on parental engagement often portrays fathers as less involved in their children's lives compared to mothers. This paper challenges such a perspective by examining fathers' engagement within the socio‐cultural contexts of Tajikistan and Azerbaijan.
Zarina Muminova   +2 more
wiley   +1 more source

Female sexual agency and frequent extra-pair copulations, but no extra-pair paternity, in Nazca boobies (Sula granti). [PDF]

open access: yesPLoS One
Anderson DJ   +5 more
europepmc   +1 more source

Evolution of Human Pair Bonds as a Consequence of Male-Biased Mating Sex Ratios? [PDF]

open access: yesBull Math Biol
Nitschke MC   +4 more
europepmc   +1 more source

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