Results 261 to 270 of about 2,685,283 (406)

Homografts in the Middle Ear [PDF]

open access: yesJournal of the Royal Society of Medicine, 1980
openaire   +3 more sources

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

open access: yesAmerican 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 Innervation of the Middle Ear [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1960
openaire   +3 more sources

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

open access: yesAmerican 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

Deep Learning Can be Used to Classify the Disease Status of the Canine Middle Ear From Computed Tomographic Images. [PDF]

open access: yesVet Radiol Ultrasound
Zhao Z   +7 more
europepmc   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger   +3 more
wiley   +1 more source

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