Results 201 to 210 of about 163,856 (247)

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura   +2 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula   +8 more
wiley   +1 more source
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TK 730

Proceedings of the Sixth International Conference on Tangible, Embedded and Embodied Interaction, 2012
In this paper, we describe the concept and process behind our work, TK 730, a typewriter that translates text into a knitted textile. TK 730 is a hybrid machine that explores the ideas of translation, encryption, language and symbols, combing materials and objects that are at once familiar and strange.
Meg Grant   +3 more
openaire   +1 more source

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