Results 131 to 140 of about 124,409 (322)
White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects
Clinical 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
Clinical Genetics, EarlyView.Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti +16 more
wiley +1 more source
Gastroesophageal reflux disease
The Saudi Journal of Gastroenterology, 1995 In this review of gastroesophageal reflux disease (GERD), we discuss the different aspects of physiology and pathophysiology and then the approach to diagnosis outlining the advantages and disadvantages of each method. The last part of this review covers
Al-Karawi Mohammed
doaj
Pilot study on anti‐reflux mucoplasty: Advancing endoscopic anti‐reflux therapy for gastroesophageal reflux disease [PDF]
, 2023 Haruhiro Inoue +11 more
openalex +1 more source
Clinical Genetics, EarlyView.Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald +10 more
wiley +1 more source
Cryptococcid Sweet Syndrome in the Setting of Hydralazine‐Induced ANCA Vasculitis: A Case Report
Journal of Cutaneous Pathology, EarlyView.ABSTRACT Acute febrile neutrophilic dermatosis, also known as Sweet syndrome, is an inflammatory skin condition characterized by the rapid onset of painful, erythematous plaques or nodules with neutrophilic infiltrate on histology. Rarely, acellular bodies surrounded by vacuolated spaces have been noted within the neutrophilic infiltrate, mimicking ...
Jenna Vroman +4 more
wiley +1 more source
MP509ESOPHAGEAL SPHINCTER PRESSURE IS SIGNIFICANTLY LOWER IN CAPD PATIENTS WITH GASTROESOPHAGEAL REFLUX DISEASE [PDF]
, 2016 Moon‐Jae Kim +2 more
openalex +1 more source
Evaluación del reflujo gastroesofágico después de manga gástrica estandarizada con el Gastroesophageal Reflux Disease Questionnaire (GerdQ) [PDF]
, 2021 Laura Quintero +4 more
openalex +1 more source