Results 131 to 140 of about 282,884 (313)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Estrogen receptor analysis in chronic lymphocytic leukemia [PDF]

open access: bronze, 1983
S. T. Rosen   +9 more
openalex   +1 more source

Tracking plasma DNA mutation dynamics in estrogen receptor positive metastatic breast cancer with dPCR-SEQ

open access: green, 2021
C.K. Anders   +7 more
openalex   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir   +6 more
wiley   +1 more source

Borylcyclopropanes: Synthetic Strategies and Applications

open access: yesAngewandte Chemie, EarlyView.
Borylcyclopropanes (cyclopropanes bearing a boron substituent) sit at the intersection of two privileged frameworks in synthesis. This review provides the first exhaustive survey of their chemistry, spanning metal–carbene, nucleophilic cyclization, radical, hydroboration, and C─H activation routes, and documenting applications in medicinal chemistry ...
Aiza A. Butt, Joseph M. Ready
wiley   +2 more sources

Estrogen receptor assay on breast cancer microsamples: Implications of percent carcinoma estimation [PDF]

open access: bronze, 1982
Johannes P. van Netten   +6 more
openalex   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang   +6 more
wiley   +1 more source

Proteome‐Wide Target Identification Using Reactive Metallo‐Scaffolds (r‐mS): A Platform for Metallodrug Discovery

open access: yesAngewandte Chemie, EarlyView.
Re‐envisioning the Ligandable Proteome: Reactive Metallo‐Scaffolds (r‐mS) combine non‐covalent protein engagement by a metallo‐scaffold with covalent cysteine capture through a tethered chloroacetamide warhead. Chemoproteomic profiling reveals unique enzyme engagement including ligases, kinases and methyltransferases, highlighting opportunities for ...
Jessica E. Waters   +15 more
wiley   +2 more sources

SnRNA‐seq reveals cellular heterogeneity and proliferation mechanisms in limb venous malformations

open access: yesAnimal Models and Experimental Medicine, EarlyView.
To dissect the cellular heterogeneity and invasive mechanisms of limb venous malformations (VMs), this study first obtained tissue samples from four patients with VMs and four normal controls (NC). Single‐nucleus suspension was prepared, followed by transcriptome library construction and sequencing. After pretreatment, quality control, standardization,
Junjie Lin   +13 more
wiley   +1 more source

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