Search Results - "Zaïnine, Rim"
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Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Published in Frontiers in genetics (25-06-2024)“…[This corrects the article DOI: 10.3389/fgene.2024.1384094.]…”
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Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Published in Frontiers in genetics (22-04-2024)“…Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% of congenital cases attributed to genetic…”
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Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients
Published in PloS one (23-03-2015)“…Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness…”
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Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness
Published in PloS one (13-06-2014)“…Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic…”
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Ectopic thyroid tissue: unusual differential diagnosis of cervical paraganglioma
Published in The Pan African medical journal (2017)“…Ectopic thyroid tissue (ETT) lateral to the midline is rare. Its occurrence in the carotid bifurcation is exceptional. We present a 45 years woman who…”
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Paraganglioma of the carotid body: Report of 26 patients and review of the literature
Published in Egyptian journal of ear, nose, throat and allied sciences (01-03-2015)“…Paragangliomas are extra-adrenal tumors originating from the neuro-ectoderm, occurring from the skull base to the pelvic floor. In the head and neck region,…”
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Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss
Published in Gene (01-08-2013)“…Hearing loss is the most frequent sensory disorder. It affects 3 in 1000 newborns. It is genetically heterogeneous with 60 causally-related genes identified to…”
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Riedel's thyroiditis
Published in Tunisie Medicale (01-03-2012)Get more information
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GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness
Published in International journal of pediatric otorhinolaryngology (01-05-2013)“…Abstract Autosomal recessive nonsyndromic deafness (ARNSD or DFNB) is a very common genetically heterogenous disorder. Although DFNB1 mutations are known to be…”
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Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome
Published in International journal of pediatric otorhinolaryngology (01-09-2013)“…Abstract Objectives Mutations of GJB2 encoding connexin 26 are the most common cause of hearing loss. They are responsible for up to 50% of ARNSHL. The…”
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A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families
Published in International journal of pediatric otorhinolaryngology (01-09-2013)“…Abstract Objectives Mutations in GJB2 are found to be responsible for 50% of congenital autosomal recessive non-syndromic hearing loss, one of the most…”
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Ludwig's Angina
Published in La Tunisie medicale (01-08-2023)“…Ludwig's angina is a severe diffuse cellulitis that presents an acute onset and spreads rapidly and bilaterally. It can affect the submandibular, sublingual or…”
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Concha bullosa pyocele
Published in Tunisie Medicale (01-09-2013)Get more information
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Facial nerve paralysis secondary to acute otitis media
Published in La Presse médicale (1983) (01-06-2014)“…To discuss clinical presentation and therapeutic approaches of facial paralysis in acute otitis media. We present five cases of facial palsy in children with…”
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What is your diagnosis?
Published in Egyptian journal of ear, nose, throat and allied sciences (01-03-2013)Get full text
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What is your diagnosis?
Published in Egyptian journal of ear, nose, throat and allied sciences (01-03-2013)Get full text
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Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients: e0120584
Published in PloS one (01-03-2015)“…Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness…”
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Paraganglioma of the nasal cavity
Published in Tunisie Medicale (01-02-2012)Get more information
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What is your diagnosis?
Published in Egyptian journal of ear, nose, throat and allied sciences (2013)Get full text
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Cystic hygroma : report of 25 cases
Published in Tunisie Medicale (01-01-2012)“…The cystic hygroma is a benign lymphatic malformation, a rare but potentially serious in its character and its evolutionary trend dissecans. The head and neck…”
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