E-LIB Suche - Ergebnisse für: Gümüş, Evren

1

Correction: Clinical findings and a DNA methylation signatu..:

Wang, Jiyong ; Foroutan, Aidin ; Richardson, Ellen...
European Journal of Human Genetics. , 2023

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

2

Suppression of premature transcription termination leads to..:

LaForce, Geneva R. ; Farr, Jordan S. ; Liu, Jingyi...
Neuron. 110 (2022) 8 - p. 1340-1357.e7 , 2022

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

3

A novel COQ7 mutation causing primarily neuromuscular patho..:

Wang, Ying ; Gumus, Evren ; Hekimi, Siegfried
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100877 , 2022

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

4

Back Cover, Volume 43, Issue 7:

Lima, Ariadne R. ; Ferreira, Barbara M. ; Zhang, Chaofan...
Human Mutation. 43 (2022) 7 - p. , 2022

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

5

Clinical findings and a DNA methylation signature in kindre..:

Wang, Jiyong ; Foroutan, Aidin ; Richardson, Ellen...
European Journal of Human Genetics. 30 (2022) 4 - p. 420-427 , 2022

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

6

Phenotypic and mutational spectrum ofROR2‐related Robinow s..:

Lima, Ariadne R. ; Ferreira, Barbara M. ; Zhang, Chaofan...
Human Mutation. 43 (2022) 7 - p. 900-918 , 2022

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

7

A novel homozygous RIPK4 variant in a family with severe Ba..:

Dinçer, Tuba ; Gümüş, Evren ; Toraman, Bayram...
American Journal of Medical Genetics Part A. 185 (2021) 6 - p. 1691-1699 , 2021

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

8

Response to Letter to the Editor: "Atrioventricular canal d..:

Gumus, Evren ; Tuncez, Ebru ; Oz, Ozlem.
Annals of Human Genetics. 85 (2021) 3-4 - p. 103-104 , 2021

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

9

Congenital insensitivity to pain: a novel mutation affectin..:

Marchi, Margherita ; D'Amato, Ilaria ; Andelic, Mirna...
Pain. 163 (2021) 7 - p. e882-e887 , 2021

Link: https://doi.org/10.1097/..

10

Extending the phenotype of Xia-Gibbs syndrome in a two-year..:

Gumus, Evren
European Journal of Medical Genetics. 63 (2020) 1 - p. 103637 , 2020

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

11

Expanding the genotypic and phenotypic spectrum of severe s..:

Abdelfattah, Fatima ; Kariminejad, Ariana ; Kahlert, Anne‐Karin...
Human Mutation. 41 (2020) 9 - p. 1615-1628 , 2020

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

12

An epilepsy‐associated ACTL6B variant captures neuronal hyp..:

Ahn, Lucie Y. ; Coatti, Giuliana C. ; Liu, Jingyi...
Journal of Neuroscience Research. 99 (2020) 1 - p. 110-123 , 2020

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

13

Two Rare Variants of Down Syndrome: Down-Turner Syndrome an..:

GUMUS, Evren
Iranian Journal of Public Health. , 2020

Link: https://doi.org/10.18502..

14

Clinical and exome sequencing findings in seven children wi..:

Gumus, Evren ; Tuncez, Ebru ; Oz, Ozlem.
Annals of Human Genetics. 85 (2020) 1 - p. 27-36 , 2020

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

15

The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphis..:

Gumus, Evren ; Temiz, Ebru ; Sarikaya, Baran...
Indian Journal of Orthopaedics. 55 (2020) 1 - p. 169-175 , 2020

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