Two patients with Apert syndrome with different mutations: the importance of early diagnosis
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چکیده
منابع مشابه
the past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group
چکیده ندارد.
Oral Findings in Patients with Apert Syndrome
INTRODUCTION The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or sur...
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Background: Many of the patients with tethered cord syndrome (TCS) are admitted because of neurological symptoms, while some are admitted because of their orthopedic, urologic, anorectal, and dermatologic manifestations.Consequently, this study aimed to evaluate the importance of early diagnosis and treatment of tethered cord syndrome on patient outcome. Methods: Fourty-three patients who und...
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this study investigated the effects of manipulating the cognitive complexity of tasks along +/- few elements and the time limits on l2 learners writing performance. to conduct the study, 60 iranian efl learners with two levels of proficiency, low and high intermediate, were selected and assigned to three groups based on the time devoted to task completion. the participants performed both a simp...
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ژورنال
عنوان ژورنال: Türk Pediatri Arşivi
سال: 2018
ISSN: 1306-0015,1308-6278
DOI: 10.5152/turkpediatriars.2016.3305