Results 151 to 160 of about 771,137 (341)
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 +13 more
wiley +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 +3 more
wiley +1 more source
The Use of Hearing Aid on Deaf Children and Changes of Their Audiograms
, 1968 Akira Totoki
openalex +2 more sources
Rate of convergence in adaptive fitting of wearable master hearing aid [PDF]
, 1977 Harry Levitt +3 more
openalex +1 more source
Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome
American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson +2 more
wiley +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
Clinical Study About the Using Methode of Hearing Aid in Young Hearing Impaired Children
, 1967 Jiro Takagi
openalex +2 more sources
Speech processing aid for persons with profound sensorineural hearing loss [PDF]
, 1977 Peter George Schreiner
openalex +1 more source