E-LIB Suche - Ergebnisse für: Ghayoor Karimiani, Ehsan

1

RTN2 deficiency results in an autosomal recessive distal mo..:

Maroofian, Reza ; Sarraf, Payam ; O'Brien, Thomas J...
Brain. 147 (2024) 7 - p. 2334-2343 , 2024

2

Genetic and Clinical Study of Children with Familial Medite..:

Malek, Abdolreza ; Abbaszadegan, Mohammadreza ; Vakili, Niloofar...
Journal of Comprehensive Pediatrics. 15 (2024) 2 - p. , 2024

Link: https://doi.org/10.5812/..

3

Limb-girdle muscular dystrophy type 2B (LGMD2B) caused by p..:

Ghayoor Karimiani, Ehsan ; Arab, Fatemeh ; Ahangari, Najmeh...
Advanced Biomedical Research. 12 (2023) 1 - p. 150 , 2023

Link: https://doi.org/10.4103/..

4

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/..

5

Bi-allelic truncating variants in CASP2 underlie a neurodev..:

Uctepe, Eyyup ; Vona, Barbara ; Esen, Fatma Nisa...
European Journal of Human Genetics. 32 (2023) 1 - p. 52-60 , 2023

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

6

Chloride Channel Mutations Leading to Congenital Myotonia:

Nik, Amir ; Ahangari, Najmeh ; Najarzadeh Torbati, Paria..
Cureus. , 2022

Link: https://doi.org/10.7759/..

7

Mutations inTAF8cause a neurodegenerative disorder:

Wong, Keit Men ; Jepsen, Wayne M ; Efthymiou, Stephanie...
Brain. 145 (2022) 9 - p. 3022-3034 , 2022

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

8

TTC5syndrome: Clinical and molecular spectrum of a severe a..:

Musante, Luciana ; Faletra, Flavio ; Meier, Kolja...
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2652-2665 , 2022

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

9

PI4K2A deficiency causes innate error in intracellular traf..:

Dafsari, Hormos Salimi ; Pemberton, Joshua G. ; Ferrer, Elizabeth A....
Annals of Clinical and Translational Neurology. 9 (2022) 9 - p. 1345-1358 , 2022

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

10

Expanding the mutational landscape and clinical phenotype o..:

Medico Salsench, Eva ; Maroofian, Reza ; Deng, Ruizhi...
Brain. 144 (2021) 10 - p. e85-e85 , 2021

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

11

Role of DYSF Genetic Variant in Limb Girdle Muscular Dystro..:

Malek, Hadis ; Shahrokhabadi, Khadijeh ; Ghavami, Saeid..
Gene, Cell and Tissue. 9 (2021) 1 - p. , 2021

Link: https://doi.org/10.5812/..

12

Collagen VI-Related Myopathies: Genetic and Clinical Findin..:

Maskani, Samaneh ; Ahangari, Najmeh ; Doosti, Mohammad...
Precision Medicine and Clinical OMICS. 1 (2021) 1 - p. , 2021

Link: https://doi.org/10.5812/..

13

Hereditary thrombophilia genetic variants in recurrent preg..:

Ahangari, Najmeh ; Doosti, Mohammad ; Mousavifar, Nezhat...
Archives of Gynecology and Obstetrics. 300 (2019) 3 - p. 777-782 , 2019

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

14

The report of two cases with multiple sulfatase deficiency ..:

Ashrafzadeh, Farah ; Zabolinejad, Naghmeh ; Ghayoor Karimiani, Ehsan...
International Journal of Dermatology. 57 (2018) 10 - p. 1242-1245 , 2018

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

15

Common KRAS and NRAS gene mutations in sporadic colorectal ..:

Hamzehzadeh, Leila ; Khadangi, Fatemeh ; Ghayoor Karimiani, Ehsan..
Current Problems in Cancer. 42 (2018) 6 - p. 572-581 , 2018

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