Results 11 to 20 of about 163,801 (186)
Compound Heterozygous PCDH15 Variants Associated With Cone-Rod Dystrophy in a Chinese Pedigree. [PDF]
Mol Genet Genomic MedThis study represents the first report suggesting a genotype–phenotype relationship between PCDH15 genetic variants and isolated retinal manifestations absent auditory impairment or syndromic features, thereby providing preliminary evidence that may broaden the mutational spectrum associated with this gene.
Zhang L +7 more
europepmc +2 more sources
A Conversation with David Usher
, 2012 David Anthony Usher was born in Harrow in the UK on November 1st, 1936, and emigrated with his family to Wellington, New Zealand in 1948. After a year at Wellesley College in Days Bay he became a boarder in Grey House at Wanganui Collegiate School. He
Ganem, Bruce, Usher, David A.
core +6 more sources
Frontiers in Genetics, 2022 Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the ...
Laura Alías +16 more
doaj +1 more source
Application of wavelet transform for PDZ domain classification. [PDF]
PLoS ONE, 2015 PDZ domains have been identified as part of an array of signaling proteins that are often unrelated, except for the well-conserved structural PDZ domain they contain.
Khaled Daqrouq +3 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2023 The human Usher syndrome (USH) is the most common form of a sensory hereditary ciliopathy characterized by progressive vision and hearing loss. Mutations in the genes ADGRV1 and CIB2 have been associated with two distinct sub-types of USH, namely, USH2C ...
Joshua Linnert +5 more
doaj +1 more source
SOX-1 antibodies in a patient with Crohn’s disease: a case report
BMC Neurology, 2022 Background The anti-SOX-1 antibodies have been mainly associated with Lambert-Eaton Myasthenic Syndrome (LETMS) and Small-Cell Lung Cancer (SCLC). In this report, we describe the interesting case of a patient with serum anti-SOX-1 antibodies and Crohn’s ...
Ennio Polilli +9 more
doaj +1 more source
, 2022 Keep protobuf generation in sync (https://github.com/yatisht/usher/pull/226) Radius doubling on the final round of optimization in matOpimize (https://github.com/yatisht/usher/pull/223) Fix indexing bug that can cause overspecific clade assignment (https:
Adriano Schneider +15 more
core +1 more source
Intravascular Molecular Imaging: Near-Infrared Fluorescence as a New Frontier
Frontiers in Cardiovascular Medicine, 2020 Despite exciting advances in structural intravascular imaging [intravascular ultrasound (IVUS) and optical coherence tomography (OCT)] that have enabled partial assessment of atheroma burden and high-risk features associated with acute coronary syndromes,
Haitham Khraishah +3 more
doaj +1 more source
, 2022 Releasing new programs usher-sampled and ripples-fast Many bug fixes and feature additions in PRs https://github.com/yatisht/usher/pull/251 – https://github.com/yatisht/usher/pull ...
Adriano Schneider +17 more
core +1 more source
Comment on Ryder's SINBAD Neurosemantics: Is Teleofunction Isomorphism the Way to Understand Representations? [PDF]
, 2004 The merit of the SINBAD model is to provide an explicit mechanism showing how the cortex may come to develop detectors responding to correlated properties and therefore corresponding to the sources of these correlations.
Usher, Marius
core +6 more sources