Search details
1.
A nucleolar long "non-coding" RNA encodes a novel protein that functions in response to stress.
Proc Natl Acad Sci U S A
; 120(9): e2221109120, 2023 02 28.
Article
in English
| MEDLINE | ID: mdl-36812203
2.
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
J Med Genet
; 60(12): 1235-1244, 2023 Nov 27.
Article
in English
| MEDLINE | ID: mdl-37558402
3.
Proteome Turnover in the Spotlight: Approaches, Applications, and Perspectives.
Mol Cell Proteomics
; 20: 100016, 2021.
Article
in English
| MEDLINE | ID: mdl-33556866
4.
Urgent care-seeking and injury severity for intimate partner violence during COVID-19: a Canadian retrospective chart review.
BMC Public Health
; 23(1): 2169, 2023 11 06.
Article
in English
| MEDLINE | ID: mdl-37932707
5.
The miRNA-mRNA interactome of murine induced pluripotent stem cell-derived chondrocytes in response to inflammatory cytokines.
FASEB J
; 34(9): 11546-11561, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32767602
6.
Confronting Medicine's Dichotomies: Older Adults' Use of Interpretative Repertoires in Negotiating the Paradoxes of Polypharmacy and Deprescribing.
Qual Health Res
; 30(3): 448-457, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31451052
7.
An Isoform-Selective PTP1B Inhibitor Derived from Nitrogen-Atom Augmentation of Radicicol.
Biochemistry
; 58(30): 3225-3231, 2019 07 30.
Article
in English
| MEDLINE | ID: mdl-31298844
8.
A high throughput substrate binding assay reveals hexachlorophene as an inhibitor of the ER-resident HSP70 chaperone GRP78.
Bioorg Med Chem Lett
; 29(14): 1689-1693, 2019 07 15.
Article
in English
| MEDLINE | ID: mdl-31129054
9.
Anatomically shaped tissue-engineered cartilage with tunable and inducible anticytokine delivery for biological joint resurfacing.
Proc Natl Acad Sci U S A
; 113(31): E4513-22, 2016 08 02.
Article
in English
| MEDLINE | ID: mdl-27432980
10.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Am J Hum Genet
; 97(2): 343-52, 2015 Aug 06.
Article
in English
| MEDLINE | ID: mdl-26235985
11.
ATP-competitive, marine derived natural products that target the DEAD box helicase, eIF4A.
Bioorg Med Chem Lett
; 27(17): 4082-4085, 2017 09 01.
Article
in English
| MEDLINE | ID: mdl-28757063
12.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25125236
13.
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Nat Genet
; 37(10): 1135-40, 2005 Oct.
Article
in English
| MEDLINE | ID: mdl-16170314
14.
Systematic analysis of proteome turnover in an organoid model of pancreatic cancer by dSILO.
Cell Rep Methods
; 4(5): 100760, 2024 May 20.
Article
in English
| MEDLINE | ID: mdl-38677284
15.
Effect of Intermittent vs. Continuous Energy Restriction on Visceral Fat: Protocol for The Healthy Diet and Lifestyle Study 2 (HDLS2).
Nutrients
; 16(10)2024 May 14.
Article
in English
| MEDLINE | ID: mdl-38794715
16.
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.
Nat Genet
; 36(5): 462-70, 2004 May.
Article
in English
| MEDLINE | ID: mdl-15107855
17.
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Nat Genet
; 36(9): 989-93, 2004 Sep.
Article
in English
| MEDLINE | ID: mdl-15314642
18.
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.
Eur J Med Genet
; 66(3): 104696, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36639056
19.
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Am J Med Genet A
; 158A(11): 2733-42, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-23023959
20.
Surgical resection of a subphrenic endometrial stromal sarcoma metastasis tethered to diaphragm and liver in a 28-year-old patient: a case report.
J Surg Case Rep
; 2022(11): rjac494, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-36389435