Results 221 to 230 of about 425,087 (345)
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 +3 more
wiley +1 more source
Appropriate use of acid-suppressive therapy in patients with gastroesophageal reflux-like symptoms. [PDF]
Proc (Bayl Univ Med Cent)Ward MA.
europepmc +1 more source
Autoantibodies to Tamm-Horsfall protein in detection of vesicoureteric reflux and kidney scarring. [PDF]
, 1977 Anders Fasth, L Å Hanson, A. W. Asscher
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 +4 more
wiley +1 more source
Evolving Indications of Esophageal Peroral Endoscopic Myotomy (E-POEM): A Review of Expanding Applications in Esophageal Pathologies. [PDF]
Curr Gastroenterol RepIchkhanian Y, DeWitt JM.
europepmc +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source