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A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype. [electronic resource] by
- Papoulidis, I
- Papageorgiou, E
- Siomou, E
- Oikonomidou, E
- Thomaidis, L
- Vetro, A
- Zuffardi, O
- Liehr, T
- Manolakos, E
- Vassilis, Papadopoulos
Producer: 20140428
In:
Gene vol. 536
Availability: No items available.
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11.
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Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome. [electronic resource] by
- Papadimitriou, D T
- Manolakos, E
- Bothou, C
- Zoupanos, G
- Papoulidis, I
- Orru, S
- Skarmoutsos, F
- Delides, A
- Bakoula, C
- Papadimitriou, A
- Urano, F
Producer: 20160825
In:
Diabetes & metabolism vol. 41
Availability: No items available.
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12.
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Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay. [electronic resource] by
- Fryssira, H
- Tsoutsou, E
- Psoni, S
- Amenta, S
- Liehr, T
- Anastasakis, E
- Skentou, Ch
- Ntouflia, A
- Papoulidis, I
- Manolakos, E
- Chaliasos, N
Producer: 20160803
In:
Molecular cytogenetics vol. 9
Availability: No items available.
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13.
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Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement. [electronic resource] by
- Manolakos, E
- Vetro, A
- Papadopoulou, E
- Kefalas, K
- Lagou, M
- Thomaidis, L
- Peitsidis, P
- Sifakis, S
- Divane, A
- Ziegler, M
- Liehr, T
- Zuffardi, O
- Papoulidis, I
Producer: 20130722
In:
Cytogenetic and genome research vol. 140
Availability: No items available.
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14.
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Human Ring Chromosomes - New Insights for their Clinical Significance. [electronic resource] by
- Guilherme, Rs
- Klein, E
- Hamid, Ab
- Bhatt, S
- Volleth, M
- Polityko, A
- Kulpanovich, A
- Dufke, A
- Albrecht, B
- Morlot, S
- Brecevic, L
- Petersen, Mb
- Manolakos, E
- Kosyakova, N
- Liehr, T
Producer: 20131122
In:
Balkan journal of medical genetics : BJMG vol. 16
Availability: No items available.
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15.
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Tetrasomy 9p mosaicism associated with a normal phenotype in two cases. [electronic resource] by
- Papoulidis, I
- Kontodiou, M
- Tzimina, M
- Saitis, I
- Hamid, A B
- Klein, E
- Kosyakova, N
- Kordass, U
- Kunz, J
- Siomou, E
- Nicolaides, P
- Orru, S
- Thomaidis, L
- Liehr, T
- Petersen, M B
- Manolakos, E
Producer: 20120814
In:
Cytogenetic and genome research vol. 136
Availability: No items available.
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16.
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Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH. [electronic resource] by
- Vetro, A
- Goidin, D
- Lesende, I
- Limongelli, I
- Ranzani, G N
- Novara, F
- Bonaglia, M C
- Rinaldi, B
- Franchi, F
- Manolakos, E
- Lonardo, F
- Scarano, F
- Scarano, G
- Costantino, L
- Tedeschi, S
- Giglio, S
- Zuffardi, O
Producer: 20190911
In:
Clinical genetics vol. 93
Availability: No items available.
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17.
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Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization. [electronic resource] by
- Manolakos, E
- Kefalas, K
- Neroutsou, R
- Lagou, M
- Kosyakova, N
- Ewers, E
- Ziegler, M
- Weise, A
- Tsoplou, P
- Rapti, S M
- Papoulidis, I
- Anastasakis, E
- Garas, A
- Sotiriou, S
- Eleftheriades, M
- Peitsidis, P
- Malathrakis, D
- Thomaidis, L
- Kitsos, G
- Orru, S
- Liehr, T
- Petersen, M B
- Kitsiou-Tzeli, S
Producer: 20121002
In:
Molecular medicine reports vol. 3
Availability: No items available.
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