E-LIB Suche - Ergebnisse für: Yesil, Gozde

1

Long-Term Disease Course of Pontocerebellar Hypoplasia Type..:

Guler, Serhat ; Aslanger, Ayca Dilruba ; Uygur Sahin, Turkan...
Pediatric Neurology. 158 (2024) - p. 1-10 , 2024

2

Clinical and Molecular Spectrum of Autosomal Recessive CA8‐..:

Kaiyrzhanov, Rauan ; Ortigoza‐Escobar, Juan Darío ; Stringer, Brett W....
Movement Disorders. 39 (2024) 6 - p. 983-995 , 2024

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

3

A Retrospective Review of 18 Patients With Childhood-Onset ..:

Kilic, Mehmet Akif ; Yildiz, Edibe Pembegul ; Deniz, Adnan...
Pediatric Neurology. 152 (2024) - p. 189-195 , 2024

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

4

HMZDupFinder: a robust computational approach for detecting..:

Du, Haowei ; Dardas, Zain ; Jolly, Angad...
Nucleic Acids Research. 52 (2023) 4 - p. e18-e18 , 2023

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

5

TRAPPC6B biallelic variants cause a neurodevelopmental diso..:

Almousa, Hashem ; Lewis, Sara A ; Bakhtiari, Somayeh...
Brain. 147 (2023) 1 - p. 311-324 , 2023

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

6

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
Brain. 146 (2023) 12 - p. 5031-5043 , 2023

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

7

Lunapark deficiency leads to an autosomal recessive neurode..:

Accogli, Andrea ; Zaki, Maha S ; Al-Owain, Mohammed...
Brain Communications. , 2023

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

8

A Novel RNPC3 Gene Variant Expands the Phenotype in Patient..:

Yavas Abali, Zehra ; Gokpinar Ili, Ezgi ; Bas, Firdevs...
Hormone Research in Paediatrics. 97 (2023) 2 - p. 157-164 , 2023

Link: https://doi.org/10.1159/..

9

Mutation identification and prediction for severe cardiomyo..:

Dedeoglu, Savas ; Dede, Elif ; Oztunc, Funda...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

10

A homozygousY443Cvariant in theRNPC3is associated with seve..:

Bezen, Diğdem ; Kutlu, Orkide ; Mouilleron, Stephane...
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2701-2706 , 2022

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

11

Biallelic loss of TRAPPC9 function links vesicle traffickin..:

Aslanger, Ayca Dilruba ; Goncu, Beyza ; Duzenli, Omer Faruk...
Journal of Human Genetics. 67 (2022) 5 - p. 279-284 , 2022

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

12

Action myoclonus-renal failure syndrome: Electrophysiologic..:

Tanriverdi, Uygur ; Ser, Merve Hazal ; Yesil, Gozde...
Parkinsonism & Related Disorders. 99 (2022) - p. 73-75 , 2022

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

13

Broad-spectrum XX and XY gonadal dysgenesis in patients wit..:

Cicek, Dilek ; Warr, Nick ; Yesil, Gozde...
European Journal of Endocrinology. 186 (2022) 1 - p. 65-72 , 2022

Link: https://doi.org/10.1530/..

14

Osteogenesis imperfecta in 140 Turkish families: Molecular ..:

Tüysüz, Beyhan ; Elkanova, Leyla ; Uludağ Alkaya, Dilek...
Bone. 155 (2022) - p. 116293 , 2022

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

15

Expanding the clinical phenotype of RASopathies in 38 Turki..:

Uludağ Alkaya, Dilek ; Lissewski, Christina ; Yeşil, Gözde..
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3623-3633 , 2021

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