Results 231 to 240 of about 542,281 (388)

Distal mean nocturnal baseline impedance on pH‐impedance monitoring predicts reflux burden and symptomatic outcome in gastro‐oesophageal reflux disease

Alimentary Pharmacology and Therapeutics, 2016
Amit Patel, D. Wang, Nitin Sainani, G. Sayuk, C. Gyawali   +4 more
semanticscholar   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

The Diagnostic Accuracy of the Nasopharyngeal Reflux Endoscopic Score (NRES) for Identifying Laryngopharyngeal Reflux Disease in Chronic Rhinosinusitis. [PDF]

J Clin Med
Sagandykova K, Papulova N, Muhamadieva G, Azhenov T, Lechien JR.   +4 more
europepmc   +1 more source

A Clinical Study on the Postoperative Reflux Esophagitis by means of an Electro-inner-pressure Tracing and pH-metry of Esophagus.

, 1969
Takashi Tanaka
openalex   +2 more sources

Gastro‐oesophageal reflux in late pregnancy [PDF]

, 1977
V. M. F. HEY, David J. Cowley, P. C. Ganguli, L Skinner, D G Ostick, D. S. Sharp   +5 more
openalex   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Correlation between the type of esophagogastric junction and refractory reflux esophagitis. [PDF]

Int J Clin Exp Pathol
Wen Z, Liu W, Li J, Tan S, Li X, Gong M, Wen J.   +6 more
europepmc   +1 more source

Cimetidine in the treatment of symptomatic gastroesophageal reflux

, 1978
José Behar, Douglas L. Brand, Fred C. Brown, Donald O. Castell, Sidney Cohen, Roger Crossley, Charles E. Pope, Charles S. Winans   +7 more
openalex   +1 more source

Response of the gullet to gastric reflux in patients with hiatus hernia and oesophagitis [PDF]

, 1970
D. A. K. Woodward
openalex   +1 more source

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +1 more source