Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature. [PDF]
Dwarte TM +16 more
europepmc +1 more source
Association of Clonal Hematopoiesis With Incident, Late‐Onset, Seropositive Rheumatoid Arthritis
Objective Clonal hematopoiesis (CH), defined by acquired driver mutations in hematopoietic stem cells, is associated with many inflammatory diseases of aging. We investigated whether CH and its subtypes, CH of indeterminate potential (CHIP) and mosaic chromosomal alteration (mCA), are associated with incident rheumatoid arthritis (RA) and whether ...
Kun Zhao +8 more
wiley +1 more source
Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy. [PDF]
Li C +7 more
europepmc +1 more source
Modern competency‐based teaching of human sexual development
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler +2 more
wiley +1 more source
Decoding the Cutaneous Jigsaw: Understanding the Patho-mechanisms of Cutaneous Mosaicism. [PDF]
Prasanna S, Singh S, Bhoite K.
europepmc +1 more source
Reception Baseline Assessment and ‘small acts’ of micro‐resistance
Abstract In September 2021, following the global COVID‐19 pandemic, the Department for Education introduced a national standardised digital Reception Baseline Assessment (RBA) for all English 4‐year‐old children. We analyse RBA and its associated Quality Monitoring Visits, as a further intensification of the new public management of early years ...
Guy Roberts‐Holmes +2 more
wiley +1 more source
Recurrent Hodgkin's Lymphoma Detected Using Abnormal NIPT in Pregnancy: A Case Report and Literature Review. [PDF]
Szlek C +8 more
europepmc +1 more source
Abstract All children should have access to quality education through a child‐centred pedagogy. An inclusive, child‐centred pedagogy uses a strength‐based view of children that recognises each child as unique and competent, providing children with multiple opportunities to explore and learn at their own pace.
Katherine Gulliver
wiley +1 more source
Adult case of 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency due to the p. Arg130Cys mutation of the <i>HSD17B10</i> gene: case report. [PDF]
Khodawrdi A +3 more
europepmc +1 more source
Abstract To negotiate quality in early childhood education and care, we must ask from different perspectives what constitutes a good centre for children. The children themselves have only recently been identified as a resource to contribute to that discussion.
Katrin Macha +4 more
wiley +1 more source

