E-LIB Suche - Ergebnisse für: Varvagiannis, Konstantinos

1

Expansion of the neurodevelopmental phenotype of individual..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics. , 2024

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

2

Correction: Expansion of the neurodevelopmental phenotype o..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics. , 2024

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

3

CAMTA1‐related disorder: Phenotypic and molecular character..:

Al‐Kateb, Hussam ; Au, P. Y. Billie ; Berland, Siren...
Clinical Genetics. , 2023

Link: https://doi.org/10.1111/..

4

Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryp..:

Marconi, Caterina ; Lemmens, Laure ; Masclaux, Frédéric...
Clinical Genetics. 100 (2021) 3 - p. 329-333 , 2021

Link: https://doi.org/10.1111/..

5

SERPINI1 pathogenic variants: An emerging cause of childhoo..:

Ranza, Emmanuelle ; Garcia‐Tarodo, Stephanie ; Varvagiannis, Konstantinos...
American Journal of Medical Genetics Part A. 173 (2017) 9 - p. 2456-2460 , 2017

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

6

Refinement of the critical 2p25.3 deletion region: the role..:

De Rocker, Nina ; Vergult, Sarah ; Koolen, David...
Genetics in Medicine. 17 (2015) 6 - p. 460-466 , 2015

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

7

De novo 393kb microdeletion of 7p11.2 characterized by aCGH..:

Varvagiannis, Konstantinos ; Papoulidis, Ioannis ; Koromila, Theodora...
Meta Gene. 2 (2014) - p. 274-282 , 2014

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

8

Pure de novo partial trisomy 6p in a girl with craniosynost..:

Varvagiannis, Konstantinos ; Stefanidou, Amalia ; Gyftodimou, Yolanda...
American Journal of Medical Genetics Part A. 161 (2013) 2 - p. 343-351 , 2013

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

9

TRIO-related neurodevelopmental disorder:

Varvagiannis, Konstantinos ; Vissers, Lisenka E.L.M ; Baralle, Diana..
https://eprints.soton.ac.uk/476320/1/TRIO_Related_Neurodevelopmental_Disorder_GeneReviews_NCBI_Bookshelf.pdf. , 2023

Link: https://eprints.soton.ac..

10

Bi-allelic loss of ERGIC1 causes relatively mild arthrogryp..:

Marconi, Caroline Baya Catherine ; Lemmens, Laure ; Masclaux, Frédéric...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14004. , 2021

Link: https://archive-ouverte...

11

Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryp..:

Marconi, Caterina ; Lemmens, Laure ; Masclaux, Frédéric...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8453841/. , 2021

Link: http://www.ncbi.nlm.nih...

12

239-kb Microdeletion Spanning KMT2E in a Child with Develop..:

Kosma, Konstantina ; Varvagiannis, Konstantinos ; Mitrakos, Anastasios...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8436641/. , 2021

Link: http://www.ncbi.nlm.nih...

13

Experience of a multidisciplinary task force with exome seq..:

Fokstuen, Siv ; Makrythanasis, Periklis ; Hammar Bouveret, Eva...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s40246-016-0080-4. , 2016

Link: https://archive-ouverte...

14

De novo 393 kb microdeletion of 7p11.2 characterized by aCG..:

Varvagiannis, Konstantinos ; Papoulidis, Ioannis ; Koromila, Theodora...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

Link: http://www.ncbi.nlm.nih...

15

Serum Dickkopf-1 is increased and correlates with reduced b..:

Voskaridou, Ersi ; Christoulas, Dimitrios ; Xirakia, Charoula...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2675686. , 2009

Link: http://www.ncbi.nlm.nih...