Results 161 to 170 of about 13,757,225 (358)

Antibody To Hepatitis B Core Antigen In Patients With Hepatocellular Carcinoma

open access: bronze, 1977
Yasuhiko Kubo   +8 more
openalex   +1 more source

Characterizing the Healthcare Utilization and Costs of Hereditary Hemorrhagic Telangiectasia

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Hereditary hemorrhagic telangiectasia (HHT) is the second‐most common inherited bleeding disorder worldwide, afflicting one in 4000–5000 people, and is the most morbid inherited bleeding disorder of women. HHT causes recurrent severe epistaxis, chronic gastrointestinal bleeding, heavy menstrual bleeding, and arteriovenous malformations in the ...
Hanny Al‐Samkari   +5 more
wiley   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo   +4 more
wiley   +1 more source

Rapid Synthesis and Diversification of Thymine‐Containing Bridged Nucleic Acids Through Cascade Cyclization Reactions

open access: yesAngewandte Chemie, EarlyView.
Several processes are reported that enable the rapid diversification of bridged nucleoside analogues (NAs) starting from a common and readily prepared fluorohydrin. Also, several clinically relevant bridged nucleosides are now prepared in as few as three synthetic steps, creating new opportunities for examining structure‐activity relationships within ...
Cohan Huxley   +7 more
wiley   +2 more sources

Risk of hepatocellular carcinoma across a biological gradient of serum hepatitis B virus DNA level.

open access: yesJournal of the American Medical Association (JAMA), 2006
Chien-Jen Chen   +7 more
semanticscholar   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff   +8 more
wiley   +1 more source

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