E-LIB Suche - Ergebnisse für: Nikzat, Nooshin

1

Exome sequencing utility in defining the genetic landscape ..:

Mohseni, Marzieh ; Babanejad, Mojgan ; Booth, Kevin T....
Clinical Genetics. 100 (2021) 1 - p. 59-78 , 2021

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

2

When transcripts matter: delineating between non-syndromic ..:

Mohseni, Marzieh ; Akbari, Mojdeh ; Booth, Kevin T....
Journal of Human Genetics. 65 (2020) 7 - p. 609-617 , 2020

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

3

Novel mutations in MYTH4-FERM domains of myosin 15 are asso..:

Mehregan, Hoda ; Mohseni, Marzieh ; Jalalvand, Khadijeh...
International Journal of Pediatric Otorhinolaryngology. 117 (2019) - p. 115-126 , 2019

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

4

G130V de novo mutation in an Iranian pedigree with nonsyndr..:

Babanejad, Mojgan ; Zarandy, Masoud Motasaddi ; Nikzat, Nooshin...
International Journal of Pediatric Otorhinolaryngology. 126 (2019) - p. 109607 , 2019

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

5

SLC52A2 mutations cause SCABD2 phenotype: A second report:

Babanejad, Mojgan ; Adeli, Omid Ali ; Nikzat, Nooshin...
International Journal of Pediatric Otorhinolaryngology. 104 (2018) - p. 195-199 , 2018

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

6

Finding mutation within non-coding region of GJB2 reveals i..:

Kashef, Atie ; Nikzat, Nooshin ; Bazzazadegan, Niloofar...
International Journal of Pediatric Otorhinolaryngology. 79 (2015) 2 - p. 136-138 , 2015

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

7

A novel mutation of the USH2C (GPR98) gene in an Iranian fa..:

KAHRIZI, KIMIA ; BAZAZZADEGAN, NILOOFAR ; JAMALI, LEILA...
Journal of Genetics. 93 (2014) 3 - p. 837-841 , 2014

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

8

A comprehensive study to determine heterogeneity of autosom..:

Babanejad, Mojgan ; Fattahi, Zohreh ; Bazazzadegan, Niloofar...
American Journal of Medical Genetics Part A. 158A (2012) 10 - p. 2485-2492 , 2012

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

9

Screening for MYO15A gene mutations in autosomal recessive ..:

Fattahi, Zohreh ; Shearer, A. Eliot ; Babanejad, Mojgan...
American Journal of Medical Genetics Part A. 158A (2012) 8 - p. 1857-1864 , 2012

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

10

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri pat..:

Davarnia, Behzad ; Babanejad, Mojgan ; Fattahi, Zohreh...
International Journal of Pediatric Otorhinolaryngology. 76 (2012) 2 - p. 268-271 , 2012

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

11

The spectrum of GJB2 mutations in the Iranian population wi..:

Bazazzadegan, Niloofar ; Nikzat, Nooshin ; Fattahi, Zohreh...
International Journal of Pediatric Otorhinolaryngology. 76 (2012) 8 - p. 1164-1174 , 2012

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

12

Did the GJB2 35delG mutation originate in Iran?:

Norouzi, Vahideh ; Azizi, Hiva ; Fattahi, Zohreh...
American Journal of Medical Genetics Part A. 155 (2011) 10 - p. 2453-2458 , 2011

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

13

Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Lo..:

Hildebrand, Michael S. ; Kahrizi, Kimia ; Bromhead, Catherine J....
Annals of Otology, Rhinology & Laryngology. 119 (2010) 12 - p. 830-835 , 2010

Link: https://doi.org/10.1177/..

14

Fragile X syndrome screening of families with consanguineou..:

Pouya, Ali Reza ; Abedini, Seyedeh Sedigheh ; Mansoorian, Neda...
European Journal of Medical Genetics. 52 (2009) 4 - p. 170-173 , 2009

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

15

Exome sequencing utility in defining the genetic landscape ..:

Mohseni, Marzieh ; Babanejad, Mojgan ; Booth, Kevin T...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8195868/. , 2021

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