Results 271 to 280 of about 20,669 (341)

BRCA Mutation Testing in Men with Metastatic Castration‐Resistant Prostate Cancer: Practical Guidance for Australian Clinical Practice

open access: yesAsia-Pacific Journal of Clinical Oncology, EarlyView.
Molecular diagnostic testing identified mCRPC patients with BRCA mutations eligible for targeted therapies. Testing success is often contingent on the quality of tissue handling and laboratory processing techniques to minimize DNA degradation and suboptimal sequencing data quality.
Arun A. Azad   +4 more
wiley   +1 more source

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

open access: yesActa Ophthalmologica, EarlyView.
Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Mark J. N. Buijs   +12 more
wiley   +1 more source

The wider perspective: Barriers and recommendations for transfusion support for patients with sickle cell disease in low‐ and middle‐income countries

open access: yesBritish Journal of Haematology, EarlyView.
Globally, sickle cell disease (SCD) is the most common inherited haemoglobinopathy. The highest burden of SCD is encountered in low‐ and middle‐income countries (LMICs), most of which lack the resources to contend with the disease. Blood transfusion remains central to the emergent treatment and prevention of complications of SCD.
Jeremy W. Jacobs   +13 more
wiley   +1 more source

Disruption of deoxyribonucleotide triphosphate biosynthesis leads to RAS proto-oncogene activation and perturbation of mitochondrial metabolism. [PDF]

open access: yesJ Biol Chem
Suspène R   +9 more
europepmc   +1 more source

Wound, pressure ulcer, and burn guidelines (2023)―4: Guidelines for the management of connective tissue disease/vasculitis‐associated skin ulcers, third edition

open access: yes
The Journal of Dermatology, EarlyView.
Yoshihide Asano   +27 more
wiley   +1 more source

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