E-LIB Suche - Ergebnisse für: Kambouris, Marios

1

The genetic landscape of autism spectrum disorder in the Mi..:

Al-Sarraj, Yasser ; Taha, Rowaida Z. ; Al-Dous, Eman...
Frontiers in Genetics. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

Pathogenic variants in KMT2C result in a neurodevelopmental..:

Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor...
The American Journal of Human Genetics. , 2024

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

3

Genomic architecture of autism spectrum disorder in Qatar: ..:

Abdi, Mona ; Aliyev, Elbay ; Trost, Brett...
Genome Medicine. 15 (2023) 1 - p. , 2023

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

4

Investigation of Genetic Causes in Patients with Congenital..:

Okashah, Sarah ; Vasudeva, Dhanya ; El Jerbi, Aya...
Genes. 13 (2022) 8 - p. 1369 , 2022

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

5

A Novel Mutation of VPS33B Gene Associated with Incomplete ..:

Agakidou, Eleni ; Agakidis, Charalampos ; Kambouris, Marios...
Case Reports in Genetics. 2020 (2020) - p. 1-8 , 2020

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

6

Cover Image, Volume 40, Issue 3:

Rehman, Atteeq U. ; Najafi, Maryam ; Kambouris, Marios...
Human Mutation. 40 (2019) 3 - p. i-i , 2019

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

7

Multiplex epithelium dysfunction due to CLDN10 mutation: th..:

Hadj-Rabia, Smail ; Brideau, Gaelle ; Al-Sarraj, Yasser...
Genetics in Medicine. 20 (2018) 2 - p. 190-201 , 2018

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

8

Biallelic loss of function variants inPPP1R21cause a neurod..:

Rehman, Atteeq U. ; Najafi, Maryam ; Kambouris, Marios...
Human Mutation. , 2018

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

9

A chromosomal microdeletion of 15q in a female patient with..:

Ahram, Dina F. ; Al‐Sarraj, Yasser ; Taha, Rowaida Z....
Clinical Case Reports. 5 (2017) 6 - p. 1013-1017 , 2017

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

10

Biallelic SCN10A mutations in neuromuscular disease and epi..:

Kambouris, Marios ; Thevenon, Julien ; Soldatos, Ariane...
Annals of Clinical and Translational Neurology. 4 (2016) 1 - p. 26-35 , 2016

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

11

Mosaic partial pericentromeric trisomy 8 and maternal unipa..:

Ahram, Dina F. ; Stambouli, Danae ; Syrogianni, Aleksandra...
Clinical Case Reports. 4 (2016) 12 - p. 1125-1131 , 2016

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

12

Two hits in one: whole genome sequencing unveils LIG4 syndr..:

Fadda, Abeer ; Butt, Fiza ; Tomei, Sara...
BMC Medical Genetics. 17 (2016) 1 - p. , 2016

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

13

Multiple Coronary Artery Microfistulas in a Girl with Kleef..:

Vargiami, Euthymia ; Ververi, Athina ; Al-Mutawa, Hamda...
Case Reports in Genetics. 2016 (2016) - p. 1-5 , 2016

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

14

Comparison of the antiplatelet effect of clopidogrel hydrog..:

Hamilos, Michalis ; Saloustros, Ilias ; Skalidis, Emmanuel...
Journal of Thrombosis and Thrombolysis. 40 (2015) 3 - p. 288-293 , 2015

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

15

Mutations in zinc finger 407 [ZNF407] cause a unique autoso..:

Kambouris, Marios ; Maroun, Rachid C ; Ben-Omran, Tawfeg...
Orphanet Journal of Rare Diseases. 9 (2014) 1 - p. , 2014

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