Results 161 to 170 of about 69,273 (262)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland   +4 more
wiley   +1 more source

Beyond the Fixed Charge: A New On‐Tissue Derivatisation Strategy Employing Photoionisable Chromophores for Mass Spectrometry Imaging of Amino‐Containing Metabolites

open access: yesAngewandte Chemie, EarlyView.
We introduce a novel chemical derivatisation strategy for the UV‐activated detection of elusive metabolites. Incorporation of a tocopherol‐active chromophore allows for the detection of tagged analytes as photoionised radical cations, selectively induced by a 266 nm laser.
Sofia R. McGowan   +5 more
wiley   +2 more sources

Cone-beam Computed Tomography Study of the Root Canal Morphology of Lower Incisors. [PDF]

open access: yesIran Endod J
Oliveira NMD   +11 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

Modifications of Resorbable Root Canal Filling Materials for Primary Teeth: A Systematic Review. [PDF]

open access: yesMaterials (Basel)
Błaszczyk-Pośpiech A   +9 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena   +13 more
wiley   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour   +5 more
wiley   +1 more source

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