Results 181 to 190 of about 1,863,440 (356)
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Case Report: Simultaneous repair of cerebrospinal fluid otorrhea and cochlear implantation in a patient with single-sided deafness and inner ear anomaly. [PDF]
Chen S, Cheng H.
europepmc +1 more source
Foxm1 Promotes Differentiation of Neural Progenitors in the Zebrafish Inner Ear
Bruce B. Riley +3 more
openalex +1 more source
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
Long-term outcomes of middle ear regenerative therapy using cell sheet transplantation combined with tympanoplasty. [PDF]
Yamamoto K +9 more
europepmc +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Multifocal Rosai-Dorfman disease with involvement of the pinna
Molly B. Hirt, MS +5 more
doaj +1 more source

