Results 161 to 170 of about 7,461,416 (297)
Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan +5 more
wiley +1 more source
Hearing Aids and Hearing Tests [PDF]
The Journal of Laryngology & Otology, 1934 openaire +2 more sources
League-ally Speaking was a newsletter published by the Toledo League for the Hard of Hearing in Toledo, Ohio. Incorporated in 1920, the organization was also an agency of the Toledo Community Chest. In 1947 the organization changed its name to the Toledo
Toledo League for the Hard of Hearing
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Hearing status and ear examination findings among adults, United States, 1960-1962 [PDF]
Hearing test results compared with medical history, household interview, and ear examination findings by age and sex among adults 18-79 years of age.Jean Roberts.Public Health Service publication, no. 1000-Ser.11-no.
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Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila +3 more
wiley +1 more source
League-ally Speaking was a newsletter published by the Toledo League for the Hard of Hearing in Toledo, Ohio. Incorporated in 1920, the organization was also an agency of the Toledo Community Chest. In 1947 the organization changed its name to the Toledo
Toledo League for the Hard of Hearing
core
Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
Latencies of conditioned vocal responses to hearing test tones in killer whales (Orcinus orca). [PDF]
Front Behav NeurosciStephens J +4 more
europepmc +1 more source