Results 191 to 200 of about 245,298 (381)

Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

open access: yesClinical Genetics, EarlyView.
Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm   +24 more
wiley   +1 more source

Round table discussion on gastroesophageal reflux disease

open access: bronze, 1978
Rekha Goyal   +4 more
openalex   +1 more source

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

open access: yesClinical Genetics, EarlyView.
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini   +14 more
wiley   +1 more source

Estimating the association and timing of occurrence between obesity and related comorbidity outcomes in a real‐world setting: A cohort study in the United States

open access: yesClinical Obesity, EarlyView.
Estimating the Association and Timing of Occurrence between Obesity and Related Comorbidity Outcomes in a Real‐World Setting: A Cohort Study in the United States. An observational, retrospective cohort study of adults with available body mass index (BMI) data during the period 2010–2019 in a large United States claims‐linked electronic health records ...
Firas Dabbous   +9 more
wiley   +1 more source

Gastric emptying of solid food in patients with gastroesophageal reflux

open access: bronze, 1987
Steven S. Shay   +3 more
openalex   +1 more source

Esophageal lichen planus: A prospective interdisciplinary, monocentric cohort study

open access: yesJDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and objectives Lichen planus (LP) is an inflammatory condition that affects skin, hair follicles, nails and mucous membranes with esophageal involvement being an underrecognized manifestation. Patients and Methods In this prospective cohort study (2020–2023), we screened 562 patients for symptomatic and clinically relevant esophageal
Rebecca Diehl   +6 more
wiley   +1 more source

Gastroesophageal Reflux in Childhood The Dilemma of Surgical Success

open access: green, 1983
William P. Tunell   +2 more
openalex   +2 more sources

Pathophysiology of Gastroesophageal Reflux and Distal Esophageal Motility in Children with Gastroesophageal Reflux Disease

open access: bronze, 1988
Salvatore Cucchiara   +5 more
openalex   +1 more source

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