E-LIB Suche - Ergebnisse für: Maroofian, R. (Reza)

1

Biallelic variants in SLC4A10 encoding a sodium-dependent b..:

Maroofian, Reza ; Zamani, Mina ; Kaiyrzhanov, Rauan...
Genetics in Medicine. 26 (2024) 3 - p. 101034 , 2024

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

2

Clarin-2 gene supplementation durably preserves hearing in ..:

Mendia, Clara ; Peineau, Thibault ; Zamani, Mina...
Molecular Therapy. 32 (2024) 3 - p. 800-817 , 2024

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

3

Expanding the phenotype of PPP1R21‐related neurodevelopment..:

Almannai, Mohammed ; Marafi, Dana ; Zaki, Maha S....
Clinical Genetics. 105 (2024) 6 - p. 620-629 , 2024

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

4

Neuroinflammation and Lysosomal Abnormalities Characterise ..:

Bucknor, Eboni M. V. ; Johnson, Errin ; Efthymiou, Stephanie...
Antioxidants. 13 (2024) 6 - p. 685 , 2024

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

5

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/..

6

Biallelic missense variants in COG3 cause a congenital diso..:

Duan, Ruizhi ; Marafi, Dana ; Xia, Zhi‐Jie...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1195-1205 , 2023

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

7

TMEM63C mutations cause mitochondrial morphology defects an..:

Tábara, Luis Carlos ; Al-Salmi, Fatema ; Maroofian, Reza...
Brain. 145 (2022) 9 - p. 3095-3107 , 2022

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

8

El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B path..:

Almannai, Mohammed ; Marafi, Dana ; Abdel‐Salam, Ghada M. H....
Clinical Genetics. 101 (2022) 5-6 - p. 530-540 , 2022

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

9

Bi-allelic variants inCHKAcause a neurodevelopmental disord..:

Klöckner, Chiara ; Fernández-Murray, J Pedro ; Tavasoli, Mahtab...
Brain. 145 (2022) 6 - p. 1916-1923 , 2022

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

10

Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur...
Genetics in Medicine. 23 (2021) 11 - p. 2138-2149 , 2021

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

11

A biallelic variant in CLRN2 causes non-syndromic hearing l..:

Vona, Barbara ; Mazaheri, Neda ; Lin, Sheng-Jia...
Human Genetics. 140 (2021) 6 - p. 915-931 , 2021

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

12

Defective phosphatidylethanolamine biosynthesis leads to a ..:

Kaiyrzhanov, Rauan ; Wortmann, Saskia ; Reid, Taryn...
Brain. 144 (2021) 3 - p. e30-e30 , 2021

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

13

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvat..:

Ghosh, Shereen G. ; Lee, Sangmoon ; Fabunan, Rudy...
Genetics in Medicine. 23 (2021) 3 - p. 524-533 , 2021

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

14

Two novel bi‐allelic KDELR2 missense variants cause osteoge..:

Efthymiou, Stephanie ; Herman, Isabella ; Rahman, Fatima...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2241-2249 , 2021

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

15

Erratum to: Biallelic variants in HPDL cause pure and compl..:

Wiessner, Manuela ; Maroofian, Reza ; Ni, Meng-Yuan...
Brain. 144 (2021) 8 - p. e70-e70 , 2021

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