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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.
Sex Dev. 2022;16(1):64-69. doi: 10.1159/000519062. Epub 2021 Oct 8.
Sex Dev. 2022.
PMID: 34628416
17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature.
Leka-Emiri S, Petrou V, Manolakos E, Thomaidis L, Fotinou A, Vlachopapadopoulou E, Michalacos S.
Leka-Emiri S, et al.
Mol Syndromol. 2019 Jan;9(6):300-305. doi: 10.1159/000494681. Epub 2018 Nov 16.
Mol Syndromol. 2019.
PMID: 30800046
Free PMC article.
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Absence of GPR54 and TACR3 mutations in sporadic cases of idiopathic central precocious puberty.
Leka-Emiri S, Louizou E, Kambouris M, Chrousos G, De Roux N, Kanaka-Gantenbein C.
Leka-Emiri S, et al.
Horm Res Paediatr. 2014;81(3):177-81. doi: 10.1159/000356913. Epub 2014 Jan 10.
Horm Res Paediatr. 2014.
PMID: 24434351
Clinical Trial.
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Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.
Mouskou S, Katerelos A, Doulgeraki A, Leka-Emiri S, Manolakos E, Papoulidis I, Ververi A, Vartzelis G, Korona A, Mastroyanni S, Voudris K.
Mouskou S, et al. Among authors: leka emiri s.
Mol Syndromol. 2021 Jun;12(3):194-199. doi: 10.1159/000514122. Epub 2021 Apr 19.
Mol Syndromol. 2021.
PMID: 34177437
Free PMC article.
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The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP).
Leka-Emiri S, Chrousos GP, Kanaka-Gantenbein C.
Leka-Emiri S, et al.
J Endocrinol Invest. 2017 Aug;40(8):789-802. doi: 10.1007/s40618-017-0627-9. Epub 2017 Mar 1.
J Endocrinol Invest. 2017.
PMID: 28251550
Review.
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Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome.
Mouskou S, Leka-Emiri S, Korona A, Mastroyanni S, Manolakos E, Papoulidis I, Sekouris N, Katerelos A, Katsarou-Pectasides E, Voudris K.
Mouskou S, et al. Among authors: leka emiri s.
Mol Syndromol. 2022 Dec;13(5):425-432. doi: 10.1159/000522532. Epub 2022 Apr 8.
Mol Syndromol. 2022.
PMID: 36588753
Free PMC article.
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