Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Adjunctive acetazolamide for drug-resistant seizures in SLC6A1-related neurodevelopmental disorder: An exploratory case series. [PDF]
Melikishvili G +17 more
europepmc +1 more source
Addressing complexity in the study of life sciences through Systems Biology and Systems Medicine has been transformative, making Systems Pharmacology the next logical step. In this review, we focus on physical stimuli, whose potential in pharmacology has been neglected, despite demonstrated therapeutic properties.
Veronica Paparozzi +10 more
wiley +1 more source
Progressive Changes in Brain Morphology in People With Idiopathic Generalized Epilepsy. [PDF]
Xiao F +14 more
europepmc +1 more source
Cosmetic Adverse Reactions and Prognostic Factors: A Retrospective Cohort Study in Wuhan, China
This study reveals that being under 20 or having a history of allergies significantly increases the risk of long‐term symptoms after a cosmetic adverse reaction. These findings help dermatologists identify high‐risk patients for proactive management and tailored preventive strategies.
Ayan Hasen +4 more
wiley +1 more source
Kindler Syndrome: A Case Report From a Developing Country. [PDF]
Hraib M, Ali Deeb C, Dib T, Baddour R.
europepmc +1 more source
Global consensus on the management of melanin hyperpigmentation disorders
A global Delphi consensus of 10 dermatology experts established evidence‐based recommendations for melanin hyperpigmentation disorders, providing unified classification, photoprotection guidance and treatment algorithms. This framework harmonizes terminology and supports individualized management across diverse skin types and health systems.
Thierry Passeron +9 more
wiley +1 more source
Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice. [PDF]
Lu Y +14 more
europepmc +1 more source
Photosensitivity, corneal scarring and developmental delay: Xeroderma Pigmentosum in a tropical country [PDF]
James Halpern +2 more
core +1 more source
Signatures of Radiation‐Induced Stress and Putative Selection on Immune Targets in Chornobyl Wolves
ABSTRACT Investigating the physiological and evolutionary consequences of contaminant exposure in wild populations is critical for understanding long‐term ecological impacts of anthropogenic change. However, how and why species persist, even thrive, in highly contaminated regions in the absence of humans remains a topic of much debate.
Cara N. Love +9 more
wiley +1 more source

