Results 81 to 90 of about 688,262 (355)
Clinical molecular genetics in the UK c.1975-c.2000
, 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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Genetics professionals' experiences with grief and loss: implications for support and training.
, 2010 This study was designed to determine the degree to which clinical genetics professionals are comfortable with grief and loss, whether discomfort with grief and loss is associated with clinician distress, and what factors predict comfort with grief and ...
Kolodner, K. +4 more
core +1 more source
Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?
FEBS Letters, EarlyView.This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes +3 more
wiley +1 more source
Concern for families and individuals in clinical genetics
, 2003 Clinical geneticists are increasingly confronted with ethical tensions between their responsibilities to individual patients and to other family members.
Lucassen, A., Parker, M.
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Training in clinical genetics and genetic counseling in Asia
, 2019 The status of training in clinical genetics and genetic counseling in Asia is at diverse stages of development and maturity. Most of the training programs are in academic training centers where exposure to patients in the clinics or in the hospital is a ...
Lai, PS +9 more
core +1 more source
Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation
FEBS Letters, EarlyView.Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe +3 more
wiley +1 more source
Molecular genetics of epilepsy: A clinician's perspective
Annals of Indian Academy of Neurology, 2017 Epilepsy is a common neurological problem, and there is a genetic basis in almost 50% of people with epilepsy. The diagnosis of genetic epilepsies makes the patient assured of the reasons of his/her seizures and avoids unnecessary, expensive, and ...
Vikas Dhiman
doaj +1 more source
, 2007 List of contributors -- Acknowledgements -- 1. Introduction: new genetic identities? / Paul Atkinson and Peter Glasner -- 2. Genetic advocacy groups, science and biovalue: creating political economies of hope / Carlos Novas -- 3.
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The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) [PDF]
, 2022 Marwan K. Tayeh +9 more
openalex +1 more source
FEBS Letters, EarlyView.The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li +2 more
wiley +1 more source