Results 11 to 20 of about 6,319,608 (297)
Clinical genetics in Britain: origins and development [PDF]
, 2010 Clinical genetics has become a major medical specialty in Britain since its beginnings with Lionel Penrose’s work on mental handicap and phenylketonuria (PKU) and John Fraser Robert’s first genetic clinic in 1946.
Harper, PS, Reynolds, LA, Tansey, EM
core +6 more sources
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
core +4 more sources
The Experience of a Tertiary Reference Hospital in the Study of Rare Neurological Diseases
Medicina, 2023 Background and Objectives: Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world’s population. RDs are often called ‘orphan’ diseases, since people suffering from them attract little support from ...
Styliani-Aggeliki Sintila +16 more
doaj +1 more source
Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature
Frontiers in Genetics, 2021 Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies.
Ruizhi Deng +3 more
doaj +1 more source
Impact of NICE Guideline NG241 'Ovarian Cancer: identifying and managing familial and genetic risk' on a regional NHS family history and clinical genetics service. [PDF]
J Med GenetBACKGROUND: NICE Guideline NG241: identifying and managing familial and genetic risk of ovarian cancer (OC) was published by the National Institute for Health and Care Excellence (NICE) in March 2024.
Roe A +5 more
europepmc +2 more sources
Genetics in clinical oncology [PDF]
The Indian Journal of Pediatrics, 1982 This is the first book to provide a thorough grounding in the applications of genetics to cancer medicine, enabling the clinician to convey to patients and their families an understanding of the genetic nature of cancer, and to provide them with accurate advice.
openaire +2 more sources
Community genetics. Its definition 2010 [PDF]
, 2010 This paper presents a definition of the medical field of community genetics. It starts with a brief historical overview, defines the requirements for an adequate definition, presents the definition, and discusses the constituent parts of the ...
Kate, L.P. ten +32 more
core +2 more sources
Diagnostically relevant facial gestalt information from ordinary photos
eLife, 2014 Craniofacial characteristics are highly informative for clinical geneticists when diagnosing genetic diseases. As a first step towards the high-throughput diagnosis of ultra-rare developmental diseases we introduce an automatic approach that implements ...
Quentin Ferry +6 more
doaj +1 more source
Analysis of Gene-Environment Interactions Related to Developmental Disorders
Frontiers in Pharmacology, 2022 Various genetic and environmental factors are associated with developmental disorders (DDs). It has been suggested that interaction between genetic and environmental factors (G × E) is involved in the etiology of DDs.
Yuhei Nishimura +2 more
doaj +1 more source
Blood Pressure, 2018 Objective: Carotid-femoral pulse wave velocity (cfPWV) was associated with serum parathyroid hormone (PTH) in untreated Chinese. We investigated in the same cohort whether cfPWV, brachial-ankle (baPWV) and heart-brachial (hbPWV) pulse wave velocity (PWV)
Yi-Bang Cheng +8 more
doaj +1 more source