Results 191 to 200 of about 450,985 (343)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan +4 more
wiley +1 more source
Diseases of the Ear, Nose, and Throat in Children [PDF]
, 1955 Thomas G. Wilson
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun +2 more
wiley +1 more source
[Advances in diagnosis and therapies of immune-mediated inner ear diseases]. [PDF]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2020 Wang H, Wang D, Wang Q.
europepmc +1 more source
Abscess in the Brain Resulting from Disease of the Ear [PDF]
, 1887 Thomas Barr
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A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas +2 more
wiley +1 more source
Journal of Mazandaran University of Medical Sciences, 2019 Background and purpose: Allergic rhinitis is a common disease in different parts of the world. It can cause deterioration of symptoms of comorbid diseases and has harmful effects on daily activities and social functions of patients. The aim of this study
Mir Mohammad Jalali +3 more
doaj