Results 191 to 200 of about 214,079 (347)

Evaluation of thyroid function tests among children with neurological disorders. [PDF]

open access: yesFront Endocrinol (Lausanne)
Meng H, Bigambo FM, Gu W, Wang X, Li Y.
europepmc   +1 more source

Associations of Thyroid Function Tests with Lipid Levels and Adverse Pregnancy Outcomes During the First Trimester. [PDF]

open access: yesDiabetes Metab Syndr Obes, 2022
Liu WY   +7 more
europepmc   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier   +7 more
wiley   +1 more source

Altered Thyroid Function Tests Observed in Hypophosphatasia Patients Treated with Asfotase Alfa. [PDF]

open access: yesInt J Endocrinol, 2021
Kato H   +6 more
europepmc   +1 more source

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales   +10 more
wiley   +1 more source

Clean Cut (adaptive, multimodal surgical infection prevention programme) for low‐resource settings: a prospective quality improvement study

open access: yesBJS (British Journal of Surgery), EarlyView., 2020
Clean Cut is a multimodal, adaptive, checklist‐based infection prevention programme designed to improve compliance with six critical perioperative infection prevention practices. After introducing the programme at five hospitals in Ethiopia, compliance with critical infection prevention standards significantly improved and the relative risk of ...
J. A. Forrester   +16 more
wiley   +1 more source

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone   +11 more
wiley   +1 more source

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