Results 41 to 50 of about 1,253,968 (181)

HDR Virtual Morning Tea – Meet and Greet

, 2023
HDR Virtual Morning Tea – Meet and ...
Supervisors, HDR Students &
core  

Barakat syndrome diagnosed decades after initial presentation

Endocrinology, Diabetes & Metabolism Case Reports, 2023
Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).
Umberto Spennato, Jennifer Siegwart, Britta Hartmann, Elisabeth Julia Fischer, Cecilia Bracco, Joel Capraro, Beat Mueller, Philipp Schuetz, Andreas Werner Jehle, Tristan Struja   +9 more
doaj   +1 more source

HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease [PDF]

, 2010
Background: HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss.
Shooshtary, Fatemeh Khalifeh, Baraty, Behrouz, Sepahi, Mohsen Akhavan   +2 more
core   +1 more source

Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

Molecular Cytogenetics, 2021
Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations.
Qiao-Yan Shao, Pei-Lin Wu, Bi-Yun Lin, Sen-Jing Chen, Jian Liu, Su-Qing Chen   +5 more
doaj   +1 more source

Oregon Department of Transportation social equity white paper

, 2021
prepared for Oregon Department of Transportation ; [prepared by] HDR, MultiCultural Collaborative, TLB Consulting.Title from PDF cover (viewed on December 6, 2021).This archived document is maintained by the State Library of Oregon as part of the Oregon ...

core  

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

Animal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source

Human Monocytic Models Reveal Genotype‐Dependent Inflammatory Programs in VEXAS Syndrome

Arthritis &Rheumatology, EarlyView.
Objective VEXAS syndrome is a severe X‐linked autoinflammatory disorder caused by somatic mutations in ubiquitin‐like modifier activating enzyme 1 (UBA1), with clinical outcomes that vary by UBA1 genotype. We aimed to elucidate genotype‐specific inflammatory programs and identify potential therapeutic targets.
Kana Higashitani, Tatsuma Ban, Yohei Kirino, Go R. Sato, Soichiro Adachi, Yuki Iizuka, Kayo Harita, Ayaka Maeda, Osamu Ohara, Hideaki Nakajima, Tomohiko Tamura   +10 more
wiley   +1 more source

Hypomagnesemia in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome Caused by Pathogenic Variants of

Kidney International Reports
Background: Heterozygous pathogenic variants in the transcription factor GATA binding protein 3 ( GATA3 ) cause hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome, also known as Barakat syndrome.
Eveline J.E.M. Kahlman, Nicole van der Zanden, Ela Zaťková, Caro Bos, Justine Bacchetta, Hendrica Belge, Charlotte M.H.H.T. Bootsma-Robroeks, Maria Luisa Brandi, Jean-François Cambier, Éloïse Colliou, Nathalie Demoulin, Lucile Figueres, Laurence Heidet, Giovanna Mantovani, Matko Marlais, John A. Sayer, Karl P. Schlingmann, Leo A. Monnens, Joost G.J. Hoenderop, Tom Nijenhuis, Jeroen H.F. de Baaij, Gema Ariceta, Walter Bonfig, Rachel Crowley, Mar Espino, Nicole van de Kar, Eva Kassi, Robbert-Jan van Lemmen, Yann Nedelec, Licia Peruzzi, Héctor Ríos Duro, Jean de Schepper, Aude Servais, Evelien Snauwaert, Annenienke van de Ven   +34 more
doaj   +1 more source

THE COMBINATION OF EXTERNAL RADIATION THERAPY WITH HIGH DOSE RATE BRAHYTERAPY BOOST FOR PROSTATE CANCER: A COMPARATIVE CHARACTERISTIC OF TWO FRACTION MODES

Сибирский онкологический журнал, 2020
The purpose of the study was to analyze treatment outcomes in prostate cancer patients, who received external radiotherapy combined with high dose rate (HDR) 198Ir brachytherapy boost of 10 Gy in 2 fractions or 15 Gy in 1 fraction.
S. V. Kanaev, S. N. Novikov, G. I. Gafton, R. V. Novikov   +3 more
doaj   +1 more source

hdr-bgnn/Minnow_Segmented_Traits: initial release

, 2023
<p>This release works with paths to TDAI Data Commons and accompanies the paper by Balk et al., "A FAIR and modular image-based workflow for knowledge discovery in the emerging field of imageomics".</p> <p>This repository ...
Meghan Balk, John Bradley, Thibault Tabarin, Hilmar Lapp   +3 more
core   +1 more source