Results 191 to 200 of about 339,221 (330)

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison   +3 more
wiley   +1 more source

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi   +5 more
wiley   +1 more source

Iron‐Catalyzed Highly Stereospecific Glycosylation with Glycal Epoxides

open access: yesAngewandte Chemie, EarlyView.
We report an iron‐catalyzed, highly stereospecific glycosylation method with glycal epoxides, which is effective for a broad range of substrates, including previously challenging, sterically hindered secondary acceptors and glucuronic ester epoxide donors.
Xiao‐Wen Zhang   +5 more
wiley   +2 more sources

Biomarkers of Microcirculatory Dysfunction in Sepsis: A Pilot Prospective Observational Study. [PDF]

open access: yesCrit Care Explor
Longino A   +12 more
europepmc   +1 more source

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