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Nicole Salameh
Nicole Salameh
Senior Laboratory Scientific Officer
在 cing.ac.cy 的电子邮件经过验证
标题
引用次数
引用次数
年份
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
A Alexandrou, N Salameh, I Papaevripidou, N Nicolaou, ...
Molecular Cytogenetics 16 (1), 8, 2023
42023
An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11. 21 microduplication in an infant with …
P Evangelidou, L Kousoulidou, N Salameh, A Alexandrou, ...
European Journal of Medical Genetics 63 (12), 104084, 2020
32020
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies
A Hadjipanteli, A Theodosiou, I Papaevripidou, P Evangelidou, ...
Genes 15 (1), 119, 2024
2024
Case report demonstrating certain pitfalls and challenges in NGS data interpretation
A Theodosiou, A Alexandrou, I Papaevripidou, L Kousoulidou, C Aristidou, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 457-457, 2024
2024
Fetal genetic factors associated with sonographic abnormalities and pregnancy loss
A Hadjipanteli, A Theodosiou, I Papaevripidou, P Evangelidou, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 103-104, 2024
2024
Combined comprehensive approach in patients within Rett/Angelman phenotypic spectrum
A Alexandrou, A Theodosiou, I Papaevripidou, A Chrysanthou, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 365-365, 2020
2020
Novel case with a double" apparently" balanced rearrangement disrupting EXT1 in a patient with hereditary multiple exostoses
A Alexandrou, N Salameh, I Papaevripidou, N Nicolaou, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 112-112, 2019
2019
An unusual combination of an atypical maternally inherited 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11. 21 microduplication in an infant with supravalvular …
P Evangelidou, G Tanteles, A Alexandrou, I Papaevripidou, A Ketoni, ...
CHROMOSOME RESEARCH 23, S55-S56, 2015
2015
Application of molecular methodologies for the identification of genetic abnormalities in aborted fetuses/intrauterine deaths that failed to grow in vitro
P Evangelidou, N Salameh, C Ioannidou, E Panayiotou, E Constantinou, ...
CHROMOSOME RESEARCH 21, S42-S42, 2013
2013
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