Results 131 to 140 of about 68,138 (263)

Deep intronic ANK1 variants causing pseudo‐exon inclusion in hereditary spherocytosis: Whole‐genome sequencing and functional assessment

open access: yes
British Journal of Haematology, EarlyView.
Victor Marin   +8 more
wiley   +1 more source

UltRaSoUnd‐guided evaLuAtion of metabolic health in a cohort of midlife women with HIV: The URSULA study

open access: yesHIV Medicine, EarlyView.
Abstract Objectives We aimed to determine the prevalence of metabolic disorders, liver steatosis and metabolic dysfunction‐associated steatotic liver disease (MASLD) in a cohort of middle‐aged women with HIV (WoWH) and to explore associations between liver steatosis, visceral fat depots and carotid atherosclerosis.
Mariacristina Poliseno   +13 more
wiley   +1 more source

Splenomegaly and Hydrocephalus [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1910
openaire   +2 more sources

Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia

open access: yesInternational Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Chronic myeloid leukemia (CML) is a disease characterized by Philadelphia (Ph) translocations. These translocations can be classical or variant. The structural features and diagnostic implications of variant Philadelphia translocations remain incompletely defined, and they display considerable cytogenetic heterogeneity. Methods In
Ayse Gul Bayrak Tokac   +10 more
wiley   +1 more source

When to consider an inborn error of immunity: clues for physicians

open access: yesInternal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

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