Results 41 to 50 of about 687,041 (305)
Pediatric Blood &Cancer, EarlyView.ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen +23 more
wiley +1 more source
Clinical Case Reports, 2017 Key Clinical Message 15q deletions have been described in association with intellectual disability and autism spectrum disorder (ASD). Previous reports have supported the role of 15q24 low copy repeats (LCRs) in mediating alternatively sized genomic ...
Dina F. Ahram +6 more
doaj +1 more source
Human variation in population-wide gene expression data predicts gene perturbation phenotype
iScience, 2022 Summary: Population-scale datasets of healthy individuals capture genetic and environmental factors influencing gene expression. The expression variance of a gene of interest (GOI) can be exploited to set up a quasi loss- or gain-of-function “in ...
Lorenzo Bonaguro +18 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Children with sickle cell disease (SCD) face multiple acute and chronic medical complications that may impact their quality of life as reported by patients themselves. Health‐related social needs (HRSNs), such as food and housing insecurity, are common in people with SCD, but the association between HRSNs and patient‐reported ...
Sarah J. Marks +5 more
wiley +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a rare pediatric CD30‐positive T‐cell lymphoproliferative disorder with an excellent prognosis, but its genomic drivers are poorly defined. We report three children with skin‐limited disease demonstrating striking molecular heterogeneity, including NPM::ALK, NUP214::FRK, and a novel ...
Shoshana Greenberger +7 more
wiley +1 more source
Empowerment: Qualitative underpinning of a new clinical genetics-specific patient-reported outcome [PDF]
, 2010 Recent qualitative research developed a new construct labelled Empowerment describing a new patient outcome from using clinical genetics services that included four dimensions: Knowledge and Understanding, Decision-Making, Instrumentality and Future ...
Dunn, Graham +6 more
core +1 more source
Clinical genetics: Medical genetics [PDF]
European Journal of Human Genetics, 2006 In these last years, there has been a proliferation of new textbooks and of new editions of classical textbooks on medical genetics targeted at medical students. However, these books are all over 400 pages with increasingly complex explanations of new discoveries and concepts.
openaire +1 more source
Diagnostics, 2020 In degenerative adult onset ataxia (AOA), dystonic comorbidity is attributed to one disease continuum. However, in early adult onset ataxia (EOA), the prevalence and pathogenesis of dystonic comorbidity (EOAD+), are still unclear.
Deborah A. Sival +7 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Fertility preservation (FP) is increasingly integrated into the care of pediatric patients exposed to gonadotoxic therapy or conditioning for hematopoietic stem cell transplantation (HSCT), yet perioperative data in infants and toddlers remain scarce.
Kerstin Saalabian +13 more
wiley +1 more source
Clinical molecular genetics in the UK c.1975-c.2000 [PDF]
, 2014 seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
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