Results 181 to 190 of about 2,817,923 (392)

Neoplastic disease of the external ear [PDF]

open access: bronze, 1989
Ramindar S. Dhillon, James W. Fairley
openalex   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley   +7 more
wiley   +1 more source

A Systematic Review of Surgical Management of Melanoma of the External Ear

open access: gold, 2018
Justin D. Sawyer   +2 more
openalex   +1 more source

A Case of a Child with a Lipoma of the Middle Ear and a Concomitant Chondroma of the External Auditory Canal [PDF]

open access: bronze, 2012
Tomoyasu Tachibana   +6 more
openalex   +1 more source

Cadherin‐26 Facilitates Transepithelial Migration of Eosinophils in Eosinophilic Chronic Rhinosinusitis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Eosinophilic chronic rhinosinusitis with nasal polyps (eCRSwNP) is characterized by persistent sinonasal inflammation and marked eosinophilic infiltration. Although the relationship between eosinophils and NP formation has been extensively studied, the mechanisms governing eosinophil transepithelial migration into the nasal mucosa ...
Yeong‐In Jo   +7 more
wiley   +1 more source

Computed Tomographic Features of Benign and Malignant External Ear Canal Neoplasms in 39 Dogs. [PDF]

open access: yesVet Radiol Ultrasound
Veitch K   +6 more
europepmc   +1 more source

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