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1 . Academic Journal
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report
저자
by
Anna Malekkou
;
Marios Tomazou
;
Gavriella Mavrikiou
;
Maria Dionysiou
;
Theodoros Georgiou
, et al.
소스
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
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7 . Academic Journal
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
저자
by
Angelos Alexandrou
;
Nicole Salameh
;
Ioannis Papaevripidou
;
Nayia Nicolaou
;
Panayiotis Myrianthopoulos
, et al.
소스
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)
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7 . Academic Journal
CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report
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by
Eleni Angelopoulou
;
Athina Theodosiou
;
Ioannis Papaevripidou
;
Angelos Alexandrou
;
Thomas Liehr
, et al.
소스
Heliyon, Vol 9, Iss 12, Pp e22987- (2023)
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7 . Academic Journal
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies
저자
by
Andrea Hadjipanteli
;
Athina Theodosiou
;
Ioannis Papaevripidou
;
Paola Evangelidou
;
Angelos Alexandrou
, et al.
소스
Genes, Vol 15, Iss 1, p 119 (2024)
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7 . Academic Journal
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing
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by
Anna Malekkou
;
Athina Theodosiou
;
Angelos Alexandrou
;
Ioannis Papaevripidou
;
Carolina Sismani
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100997- (2023)
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7 . Academic Journal
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing
저자
by
Constantia Aristidou
;
Athina Theodosiou
;
Angelos Alexandrou
;
Ioannis Papaevripidou
;
Paola Evangelidou
, et al.
소스
Genes, Vol 14, Iss 1, p 82 (2022)
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7 . Academic Journal
Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.
저자
by
Evie Kritioti
;
Athina Theodosiou
;
Thibaud Parpaite
;
Angelos Alexandrou
;
Nayia Nicolaou
, et al.
소스
PLoS ONE, Vol 16, Iss 7, p e0253562 (2021)
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7 . Academic Journal
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.
저자
by
Constantia Aristidou
;
Athina Theodosiou
;
Mads Bak
;
Mana M Mehrjouy
;
Efthymia Constantinou
, et al.
소스
PLoS ONE, Vol 13, Iss 10, p e0205298 (2018)
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7 . Academic Journal
First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature
저자
by
Evie Kritioti
;
Athina Theodosiou
;
Nayia Nicolaou
;
Angelos Alexandrou
;
Ioannis Papaevripidou
, et al.
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In
European Journal of Medical Genetics
July 2020 63(7)
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7 .
Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population
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by
Pavlina Iliopoulou
;
Efstathios Tsitsopoulos
;
Ioannis Papaevripidou
;
Voula Velissariou
;
Dagmar Huhle
, et al.
소스
Journal of Human Genetics
. 65:783-795
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