Search Results - "Emmanouilidou, Eleftheria"
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Expanding the phenotype of TAB2 variants and literature review
Published in American journal of medical genetics. Part A (01-11-2022)“…TAB2 is a gene located on chromosome 6q25.1 and plays a key role in development of the heart. Existing literature describes congenital heart disease as a…”
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Journal Article -
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An unexpected cause of vaginal bleeding: the role of pelvic radiography
Published in BMJ case reports (14-02-2014)“…Vaginal bleeding and/or discharge in young girls may result from infection, urological problems, endocrine causes, bleeding disorders, dermatological…”
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Journal Article -
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Growth Hormone Deficiency: an unusual presentation of Floating Harbor Syndrome
Published in Hormones (Athens, Greece) (01-07-2011)“…Floating-Harbor Syndrome (FHS) is a very rare condition of unknown etiology characterized by short stature, delayed bone age, characteristic facial features,…”
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A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris
Published in Hormones (Athens, Greece) (01-01-2008)“…Silver Russell Syndrome (SRS) is a rare condition (1/3000–1/100,000 newborns). We present a female infant with SRS, cardiac malposition and asymmetric…”
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Journal Article -
5
Expanding the phenotype of TAB2 variants and literature review
Published in American journal of medical genetics. Part A (01-11-2022)Get full text
Report -
6
An unexpected cause of vaginal bleeding: the role of pelvic radiography
Published in BMJ Case Reports (14-02-2014)“…Vaginal bleeding and/or discharge in young girls may result from infection, urological problems, endocrine causes, bleeding disorders, dermatological…”
Get full text
Report