Results 101 to 110 of about 524,971 (303)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
Incidence of External Ear Canal Folliculitis
Journal of Rawalpindi Medical College, 2017 To analyze the incidence of External Ear Canal Folliculitis (EECF) in adult population of district Bannu. Methods: In this descriptive study 100 patients with ear ache, presented in four quarters of the year were included.
Mohammad Iqba
doaj
External ear: An analysis of its uniqueness
Egyptian Journal of Forensic Sciences, 2016 In modern times the establishment of personal identity has widened its scope considerably by encompassing various morphological traits e.g. face, iris, retina, hand etc. apart from traditional dactyloscopy.
Ruma Purkait
doaj +1 more source
Tracking Charts 2008 Adidas AG, Bangladesh [PDF]
, 2008 The FLA uses Tracking Charts to provide the public with information about the compliance situation of individual factories - the specific problems that were found by monitors and the action taken by participating companies in response to the findings ...
Fair Labor Association
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Feline vestibular disorders. Part II: diagnostic approach and differential diagnosis. [PDF]
, 1999 Results of a neurological examination usually permit localisation of a vestibular disorder to either the central or peripheral parts of the vestibular system. Many different disorders located in the same part of the vestibular system will produce similar
LeCouteur, RA, Vernau, KM
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Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American 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
The topographic surgical external ear anatomy of the guinea pig
Turkish Archives of Otorhinolaryngology, 2009 Objectives:This study was conducted to investigate and describe the topographic anatomical details of the external ear of the guinea pig (GP).Methods:Twenty ears were dissected with the aid of an operating microscope and microsurgical techniques ...
Sedat Ayd›n +2 more
doaj +1 more source
DPOAE in HIV infected adults [PDF]
, 2008 HIV infection is associated with impairment of hearing function, at any stage of disease causing complication to the external, middle, inner ear and CNS.
Bhat, Jayashree S, Ranjan, Rajesh
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