Results 81 to 90 of about 171,543 (348)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source
HUBUNGAN POLA PERILAKU BERSIH TELINGA DENGAN KEJADIAN OTITIS EKSTERNA PADA PEKERJA PABRIK PT WIJAYA KARYA BETON PASURUAN [PDF]
Ear cleaning behavior patterns are procedures carried out to clean dirt or foreign objects in the ear. Cleaning the ears too often and using tools such as cotton buds can damage the lining of the ear canal, triggering otitis externa.
Fadhilah, Almira rahma
core
Influence of exostoses on ear sound transfer function [PDF]
, 2014 Exostózy jsou povrchové kostní výrůstky v zevním zvukovodu lidského ucha. Hlavním úkolem diplomové práce je zjistit, jaký vliv může mít zúžení zevního zvukovodu exostózami na mechanický přenos zvuku do vnitřního ucha.
Vališová, Šárka
core
Self-injury in schizophrenia as predisposing factor for otomycosis
Medical Mycology Case Reports, 2018 Ear self-mutilation have been reported in schizophrenia, Mechanical damages to the auditory canal, like cleaning ear with hard and unsterile objects are predisposing factors of otomycosis.We present a case of repeated self-induced auricular trauma in ...
Merad Yassine, Adjmi-Hamoudi Haiet
doaj +1 more source
The shape of the ear canal [PDF]
Physics Letters A, 2006 It is proved that the measurement of the acoustic pressure on the ear membrane allows one to determine the shape of the ear $ uniquely.
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Stretching stenoses of the external auditory canal: a report of four cases and brief review of the literature [PDF]
, 2015 Acquired stenosis of the external auditory canal may be caused by a variety of insults, all sharing a common pathogenesis, namely a cascade of inflammatory changes leading to medial canal fibrosis.
Boscolo Nata, F +3 more
core +1 more source
Inner ear ossification and mineralization kinetics in human embryonic development - microtomographic and histomorphological study. [PDF]
, 2017 Little is known about middle and inner ear development during the second and third parts of human fetal life. Using ultra-high resolution Microcomputed Tomography coupled with bone histology, we performed the first quantitative middle and inner ear ...
Courbon, G. +5 more
core +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso +14 more
wiley +1 more source