E-LIB Suche - Ergebnisse für: Kousoulidou, Ludmila

1

Sodium Channel Gene Variants in Fetuses with Abnormal Sonog..:

Hadjipanteli, Andrea ; Theodosiou, Athina ; Papaevripidou, Ioannis...
Genes. 15 (2024) 1 - p. 119 , 2024

Link: https://doi.org/10.3390/..

2

Hereditary multiple exostoses caused by a chromosomal inver..:

Alexandrou, Angelos ; Salameh, Nicole ; Papaevripidou, Ioannis...
Molecular Cytogenetics. 16 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

3

Novel pericentric inversion inv(9)(p23q22.3) in unrelated i..:

Sismani, Carolina ; Rapti, Stamatia-Maria ; Iliopoulou, Pavlina...
Journal of Human Genetics. 65 (2020) 9 - p. 783-795 , 2020

Link: https://doi.org/10.1038/..

4

An unusual combination of an atypical maternally inherited ..:

Evangelidou, Paola ; Kousoulidou, Ludmila ; Salameh, Nicole...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104084 , 2020

Link: https://doi.org/10.1016/..

5

De novo mosaic MECP2 mutation in a female with Rett syndrom:

Alexandrou, Angelos ; Papaevripidou, Ioannis ; Alexandrou, Ioanna Maria...
Clinical Case Reports. 7 (2019) 2 - p. 366-370 , 2019

Link: https://doi.org/10.1002/..

6

Two unrelated individuals carrying rare mosaic deletions in..:

Kousoulidou, Ludmila ; Alexandrou, Angelos ; Papaevripidou, Ioannis...
American Journal of Medical Genetics Part A. 179 (2018) 1 - p. 134-138 , 2018

Link: https://doi.org/10.1002/..

7

Haploinsufficiency of the miR-873/miR-876 microRNA cluster ..:

Koufaris, Costas ; Papagregoriou, Gregoris ; Kousoulidou, Ludmila...
Gene. 561 (2015) 1 - p. 95-100 , 2015

Link: https://doi.org/10.1016/..

8

Screening of 50 Cypriot Patients with Autism Spectrum Disor..:

Kousoulidou, Ludmila ; Moutafi, Maria ; Nicolaides, Paola...
BioMed Research International. 2013 (2013) - p. 1-5 , 2013

Link: https://doi.org/10.1155/..

9

263.4 kb deletion within the TCF4 gene consistent with Pitt..:

Kousoulidou, Ludmila ; Tanteles, George ; Moutafi, Maria...
European Journal of Medical Genetics. 56 (2013) 6 - p. 314-318 , 2013

Link: https://doi.org/10.1016/..

10

21 Mb deletion in chromosome band 13q22.2q32.1 associated w..:

Grigori, Panagiota ; Panayiotou, Elena ; Sismani, Carolina...
European Journal of Medical Genetics. 54 (2011) 3 - p. 365-368 , 2011

Link: https://doi.org/10.1016/..

11

9 Mb familial duplication in chromosome band Xp22.2–22.13 a..:

Sismani, Carolina ; Anastasiadou, Violetta ; Kousoulidou, Ludmila...
European Journal of Medical Genetics. 54 (2011) 5 - p. e510-e515 , 2011

Link: https://doi.org/10.1016/..

12

Application of two different microarray-based copy-number d..:

Kousoulidou, Ludmila ; Männik, Katrin ; Zilina, Olga...
Clinical Chemistry and Laboratory Medicine. 46 (2008) 5 - p. , 2008

Link: https://doi.org/10.1515/..

13

Array-MAPH: a methodology for the detection of locus copy-n..:

Kousoulidou, Ludmila ; Männik, Katrin ; Sismani, Carolina...
Nature Protocols. 3 (2008) 5 - p. 849-865 , 2008

Link: https://doi.org/10.1038/..

14

Screening of 20 patients with X-linked mental retardation u..:

Kousoulidou, Ludmila ; Parkel, Sven ; Zilina, Olga...
European Journal of Medical Genetics. 50 (2007) 6 - p. 399-410 , 2007

Link: https://doi.org/10.1016/..

15

O31: Array-MAPH: a novel microarray technology for genomic ..:

Kousoulidou, Ludmila ; Männik, Katrin ; Bashiardis, Stavros...
European Journal of Medical Genetics. 48 (2005) 4 - p. 530-531 , 2005

Link: https://doi.org/10.1016/..