E-LIB Suche - Ergebnisse für: Kahrizi, K. (Kimia)

1

POLRMT mutations impair mitochondrial transcription causing..:

Oláhová, Monika ; Peter, Bradley ; Szilagyi, Zsolt...
Nature Communications. 12 (2021) 1 - p. , 2021

2

Adenosine kinase deficiency: expanding the clinical spectru..:

Staufner, Christian ; Lindner, Martin ; Dionisi‐Vici, Carlo...
Journal of Inherited Metabolic Disease. 39 (2015) 2 - p. 273-283 , 2015

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

3

A defect in the CLIP1 gene (CLIP-170) can cause autosomal r..:

Larti, F. (Farzaneh) ; Kahrizi, K. (Kimia) ; Musante, L. (Luciana)...
info:eu-repo/grantAgreement/EC/FP7/241995. , 2014

Link: http://repub.eur.nl/pub/..

4

POLRMT mutations impair mitochondrial transcription causing..:

Monika Oláhová ; Bradley Peter ; Zsolt Szilagyi...
https://doi.org/10.1038/s41467-021-21279-0. , 2021

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

5

POLRMT mutations impair mitochondrial transcription causing..:

Oláhová, Monika ; Peter, Bradley ; Szilagyi, Zsolt...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7893070/. , 2021

Link: http://www.ncbi.nlm.nih...

6

A splice-altering variant in LARP7 gene leads to exon exclu..:

Hosseini, M. ; Larti, F. ; Fattahi, Z...
Gene Reports. 15 (2019) - p. 100375 , 2019

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

7

Variants in CIB2 cause DFNB48 and not USH1J:

Booth, K.T. ; Kahrizi, K. ; Babanejad, M....
Clinical Genetics. 93 (2018) 4 - p. 812-821 , 2018

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

8

The power of the Mediator complex—Expanding the genetic arc..:

Charzewska, A. ; Maiwald, R. ; Kahrizi, K....
Clinical Genetics. 94 (2018) 5 - p. 450-456 , 2018

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

9

De novo and inherited mutations in the X-linked gene CLCN4 ..:

DDD Study ; Palmer, E E ; Stuhlmann, T...
Molecular Psychiatry. 23 (2016) 2 - p. 222-230 , 2016

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

10

Improved diagnostic yield of neuromuscular disorders applyi..:

Fattahi, Z. ; Kalhor, Z. ; Fadaee, M....
Clinical Genetics. 91 (2016) 3 - p. 386-402 , 2016

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

11

Investigation ofATP6V1B1andATP6V0A4genes causing hereditary..:

Zeinali, F ; Mohseni, M ; Fadaee, M...
The Journal of Laryngology & Otology. 128 (2014) 12 - p. 1056-1059 , 2014

Link: https://doi.org/10.1017/..

12

Investigation of primary microcephaly in Bushehr province o..:

Papari, E ; Bastami, M ; Farhadi, A...
Clinical Genetics. 83 (2012) 5 - p. 488-490 , 2012

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

13

Variable hearing impairment in a DFNB2 family with a novel ..:

Hildebrand, MS ; Thorne, NP ; Bromhead, CJ...
Clinical Genetics. 77 (2010) 6 - p. 563-571 , 2010

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

14

A novel mutation adjacent to the Bth mouse mutation in the ..:

Yang, T ; Kahrizi, K ; Bazazzadeghan, N...
Clinical Genetics. 77 (2010) 4 - p. 395-398 , 2010

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

15

Carrier frequency of SMA by quantitative analysis of the SM..:

Hasanzad, M. ; Azad, M. ; Kahrizi, K....
European Journal of Neurology. 17 (2009) 1 - p. 160-162 , 2009

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