Search Results - "Gao, Fenqi"
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Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature
Published in Orphanet journal of rare diseases (20-07-2020)“…Mastermind-like domain-containing 1 (MAMLD1) has previously been identified as a causative gene for "46,XY Disorders of Sex Development (DSD)". Recently, there…”
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Auditory and speech performance after unilateral cochlear implantation for cochlear nerve canal stenosis
Published in Ear, nose, & throat journal (01-04-2024)“…To explore the correlation between the width of the bony cochlear nerve canal (CNC) and long-term auditory rehabilitation after unilateral cochlear…”
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Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance
Published in Frontiers in endocrinology (Lausanne) (23-12-2020)“…Mastermind-like domain-containing 1 (MAMLD1) has been shown to play an important role in the process of sexual development and is associated with 46,XY…”
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Cochlear Nerve Canal Stenosis: Association With MYH14 and MYH9 Genes
Published in Ear, nose, & throat journal (01-06-2021)“…The bony cochlear nerve canal transmits the cochlear nerve as it passes from the fundus of the internal auditory canal to the cochlea. Stenosis of the cochlear…”
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Advance in research on the role of MAMLD1 gene in disorders of sex development
Published in Zhonghua yi xue yi chuan xue za zhi (10-09-2021)“…MAMLD1 gene has been implicated in 46,XY disorders of sex development (DSD) in recent years. Patients carrying MAMLD1 gene variants showed a "continuous…”
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Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature
Published in Journal of personalized medicine (05-03-2022)“…KBG syndrome (KBGS) is a rare autosomal dominant inherited disease that involves multiple systems and is associated with variations in the ankyrin repeat…”
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Characteristics of electrically evoked auditory brainstem responses in patients with cochlear nerve canal stenosis receiving cochlear implants
Published in International journal of pediatric otorhinolaryngology (01-01-2018)“…To explore the characteristics of the electrically evoked auditory brainstem responses (EABR) in children with cochlear nerve canal stenosis (CNCs) following…”
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