Results 211 to 220 of about 919,054 (290)

The Oral Microbiome of King Richard III of England. [PDF]

open access: yesAm J Biol Anthropol
Velsko IM   +15 more
europepmc   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo   +5 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Trends in the use of dental prostheses among adults and the elderly and the effects of their provision in the Brazilian health system 2003-2023. [PDF]

open access: yesRev Bras Epidemiol
Chaves SCL   +10 more
europepmc   +1 more source

Quantitative serological detection of NELL1 autoantibodies in membranous nephropathy. [PDF]

open access: yesKidney Int
Burbelo PD   +6 more
europepmc   +1 more source

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