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1 .
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome
저자
by
Stella Mouskou
;
Sofia Leka-Emiri
;
Anastasia Korona
;
Sotiria Mastroyanni
;
Emmanouil Manolakos
, et al.
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Molecular Syndromology
. 13:425-432
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7 .
3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting
저자
by
Ludmia Taibi
;
Nicolas de Roux
;
Stefanos Michalacos
;
Sofia Leka-Emiri
;
Vasiliki Mavroeidi
, et al.
소스
Sexual Development
. 16:64-69
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7 .
Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy
저자
by
Sofia Leka-Emiri
;
Adamantios Katerelos
;
Konstantinos A. Voudris
;
Artemis Doulgeraki
;
Emmanouil Manolakos
, et al.
소스
Molecular Syndromology
. 12:194-200
Open Access (OpenAIRE)
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7 .
Κλινική και μοριακή μελέτη παιδιών με διαταραχές ενήβωσης
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by
Sofia Leka-Emiri
.
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3 .
'Continued Growth Hormone (GH) Treatment after Final Height Is Necessary to Complete Somatic Development in Childhood-Onset GH-Deficient Patients?'
저자
by
Elpis Athina Vlachopapadopoulou
;
Sofia Leka-Emiri
.
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4 .
The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP)
저자
by
George P. Chrousos
;
Christina Kanaka-Gantenbein
;
Sofia Leka-Emiri
.
소스
Journal of Endocrinological Investigation
. 40:789-802
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5 .
Levothyroxine treatment of subclinical (SH) and overt (OH) hypothyroidism in children with autoimmune hashimoto thyroiditis (AHT): defining the TSH cut-off level
저자
by
Aspasia Fotinou
;
Caterina Evangelopoulou
;
Stefanos Michalacos
;
Sofia Leka-Emiri
;
Vassilios Petrou
, et al.
소스
Endocrine Abstracts
.
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7 .
17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature
저자
by
Stefanos Michalacos
;
Sofia Leka-Emiri
;
Vassilios Petrou
;
Elpis Vlachopapadopoulou
;
Aspasia Fotinou
, et al.
소스
Molecular syndromology
. 9(6)
Open Access (OpenAIRE)
Scopus
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7 .
Re-evaluation of GH secretion during the transition age in patients with childhood-onset isolated GH deficiency (IGHD) after GH therapy (GHRx)
저자
by
Stefanos Michalacos
;
Petychaki Fotini
;
Sofia Leka-Emiri
;
Vlachopapadopoulou Elpis-Athina
;
Maria Kafetzi
, et al.
소스
Endocrine Abstracts
.
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