American Journal of Community Psychology, EarlyView.Abstract Firefighters face an array of stressors due to the demands of their occupation, leading to a high prevalence of mental health challenges. Social prescribing represents a novel approach to healthcare that emphasizes a holistic view of health and wellbeing.
Janice Ikeda +2 more
wiley +1 more source
Meaning-making of existential aspects of motherhood transition: a systematic qualitative review protocol using framework synthesis. [PDF]
BMJ OpenMoos C, Sejrsgaard M, Damm MF, Prinds C.
europepmc +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
"Temporal meaning-making of women's emotional experiences during the infertility treatment process: a qualitative study". [PDF]
Int J Qual Stud Health Well-beingKaraca Biçakçi N, Çalmaz A, Altay B.
europepmc +1 more source
35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li +25 more
wiley +1 more source
How being a mother has made me a better family physician. [PDF]
S Afr Fam Pract (2004)Van der Bijl CC.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman +15 more
wiley +1 more source
Invisible lines of inequality: intersections of gender, motherhood, and work-based discrimination in Bulgaria. [PDF]
Front SociolSpasova L.
europepmc +1 more source
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr +5 more
wiley +1 more source
The transition to motherhood: a qualitative study of new mothers' experiences of loneliness and associated challenges. [PDF]
Int J Qual Stud Health Well-beingMeyer-Österlund M +2 more
europepmc +1 more source