Results 71 to 80 of about 5,927 (293)
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
Cholesteatoma in children: histopathologic findings in middle ear ossicles.
, 1995 Middle ear ossicles removed during ear surgery in 40 patients were examined in order to compare the histopathologic changes in children with those observed in adults.
RESTA, Leonardo +4 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Communications BiologyThe characterization of the vibrations of the middle ear ossicles during sound transmission is a focal point in clinical research. However, the small size of the structures, their micrometer-scale movement, and the deep-seated position of the middle ear ...
Margaux Schmeltz +8 more
doaj +1 more source
Middle ear anatomy and implant sizes: correlates and the need for uniform implant dimensions
Frontiers in Audiology and OtologyIntroductionConductive hearing loss describes an insufficient sound transfer of the middle ear, often caused by defects or absence of the ossicles. Depending on the specific middle ear dimensions and the kind of defect, surgeons can choose from a variety
Thomas Lenarz +7 more
doaj +1 more source
The mechanism of the ossicles of the ear and membrana tympani
, 1873 THE MECHANISM OF THE OSSICLES OF THE EAR AND MEMBRANA TYMPANI The mechanism of the ossicles of the ear and membrana tympani (-
Helmholtz, Hermann von
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Bone Conduction and the Middle Ear
, 2012 With more than a century of research in the field of bone conduction (BC) hearing, the importance of the contributors for bone-conducted sound is not clarified and there is no consensus on the issues.
Stenfelt, Stefan,, Stefan Stenfelt
core +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Ontogenetic development of weberian ossicles and hearing abilities in the African bullhead catfish.
PLoS ONE, 2011 BackgroundThe weberian apparatus of otophysine fishes facilitates sound transmission from the swimbladder to the inner ear to increase hearing sensitivity. It has been of great interest to biologists since the 19(th) century.
Walter Lechner +4 more
doaj +1 more source
Striking Bone Marrow Plasmacytosis Resulting From Visceral Leishmaniasis
American Journal of Hematology, EarlyView.
Vishakha Sovani +2 more
wiley +1 more source