E-LIB Suche - Ergebnisse für: Nayia Nicolaou

1

First reported case of Steel syndrome in the European popul..:

Evie Kritioti ; Athina Theodosiou ; Nayia Nicolaou...
European Journal of Medical Genetics. 63 (2020) 7 - p. 103939 , 2020

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

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

Unravelling the genetic causes of multiple malformation syn..:

Kritioti, Evie ; Theodosiou, Athina ; Parpaite, Thibaud...
PLOS ONE. 16 (2021) 7 - p. e0253562 , 2021

Link: https://doi.org/10.1371/..

4

Goldberg–Shprintzen syndrome is determined by the absence, ..:

MacKenzie, Katherine C. ; Graaf, Bianca M. ; Syrimis, Andreas...
Human Mutation. 41 (2020) 11 - p. 1906-1917 , 2020

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

5

Aniridia due to a novel microdeletion affecting $$\textit{P..:

Syrimis, Andreas ; Nicolaou, Nayia ; Alexandrou, Angelos...
Journal of Genetics. 97 (2018) 2 - p. 555-562 , 2018

Link: https://doi.org/10.1007/..

6

De novo 14q24.2q24.3 microdeletion including IFT43 is assoc..:

Stokman, Marijn F. ; Oud, Machteld M. ; van Binsbergen, Ellen...
American Journal of Medical Genetics Part A. 170 (2016) 6 - p. 1566-1569 , 2016

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

7

Corrigendum to "Assessment of common variability and expres..:

Ferrari, Raffaele ; Ryten, Mina ; Simone, Roberto...
Neurobiology of Aging. 36 (2015) 11 - p. 3118 , 2015

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

8

The clinical and pathological phenotype of C9ORF72 hexanucl..:

Simón-Sánchez, Javier ; Dopper, Elise G. P. ; Cohn-Hokke, Petra E....
Brain. 135 (2012) 3 - p. 723-735 , 2012

Link: https://doi.org/10.1093/..

9

Frequency of the C9orf72 hexanucleotide repeat expansion in..:

Majounie, Elisa ; Renton, Alan E ; Mok, Kin...
The Lancet Neurology. 11 (2012) 4 - p. 323-330 , 2012

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

10

A pathway-based analysis provides additional support for an..:

Holmans, Peter ; Moskvina, Valentina ; Jones, Lesley...
Human Molecular Genetics. 22 (2012) 5 - p. 1039-1049 , 2012

Link: https://doi.org/10.1093/..

11

Hereditary multiple exostoses caused by a chromosomal inver..:

Angelos Alexandrou ; Nicole Salameh ; Ioannis Papaevripidou...
https://doi.org/10.1186/s13039-023-00638-0. , 2023

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

12

Unravelling the genetic causes of multiple malformation syn..:

Evie Kritioti ; Athina Theodosiou ; Thibaud Parpaite...
https://doi.org/10.1371/journal.pone.0253562. , 2021

Link: https://doi.org/10.1371/..

13

Primers used for site-directed mutagenesis in human PIEZO2 ..:

Evie Kritioti (11204265) ; Athina Theodosiou (3629132) ; Thibaud Parpaite (11204268)...
https://figshare.com/articles/journal_contribution/Primers_used_for_site-directed_mutagenesis_in_human_i_PIEZO2_i_pcDNA3_1_/15075675. , 2021

Link: https://doi.org/10.1371/..

14

IGV image illustrating presence of de novo variants p.(Ala1..:

Evie Kritioti (11204265) ; Athina Theodosiou (3629132) ; Thibaud Parpaite (11204268)...
https://figshare.com/articles/figure/IGV_image_illustrating_presence_of_i_de_novo_i_variants_p_Ala1181Gly_and_p_Lys1196Arg_in_i_HECW2_i_in_patient_13_on_same_reads_/15075666. , 2021

Link: https://doi.org/10.1371/..

15

Principal Component Analysis (PCA) using peddy tool, of sam..:

Evie Kritioti (11204265) ; Athina Theodosiou (3629132) ; Thibaud Parpaite (11204268)...
https://figshare.com/articles/figure/Principal_Component_Analysis_PCA_using_i_peddy_i_tool_of_samples_i_n_i_166_from_in-house_dataset_in_purple_projected_to_those_from_1000_genomes_/15075681. , 2021

Link: https://doi.org/10.1371/..