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Works matching AU Khoshaeen, Atefeh

Results: 6

1

Abstract Introduction of a Novel Pathogenic Variant (c.1684G>A) in The SOX5 Gene Associated With Lamb–Shaffer Syndrome in a Family From North of Iran.

Published in:

Case Reports in Clinical Practice, 2023, v. 8, n. 6, p. 233

By:

Amirfiroozy, Akbar;
Jalali, Hossein;
Khoshaeen, Atefeh;
Mahdavi, Mohammad Reza;
Mahdavi, Mahan

Publication type:

Article

2

Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 59, doi. 10.1111/cge.13956

By:

Mohseni, Marzieh;
Babanejad, Mojgan;
Booth, Kevin T.;
Jamali, Payman;
Jalalvand, Khadijeh;
Davarnia, Behzad;
Ardalani, Fariba;
Khoshaeen, Atefeh;
Arzhangi, Sanaz;
Ghodratpour, Fatemeh;
Beheshtian, Maryam;
Jahanshad, Faezeh;
Otukesh, Hasan;
Bahrami, Fatemeh;
Seifati, Seyed Morteza;
Bazazzadegan, Niloofar;
Habibi, Farkhonde;
Behravan, Hanieh;
Mirzaei, Sepide;
Keshavarzi, Fatemeh

Publication type:

Article

3

Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum-Like Skin Manifestations Associated with GGCX Mutations.

Published in:

Journal of Investigative Dermatology, 2014, v. 134, n. 9, p. 2331, doi. 10.1038/jid.2014.191

By:

Kariminejad, Ariana;
Bozorgmehr, Bita;
Najafi, Abdolhamid;
Khoshaeen, Atefeh;
Ghalandari, Maryam;
Najmabadi, Hossein;
Kariminejad, Mohamad H;
Vanakker, Olivier M;
Hosen, Mohammad J;
Malfait, Fransiska;
Quaglino, Daniela;
Florijn, Ralph J;
Bergen, Arthur A B;
Hennekam, Raoul C

Publication type:

Article

4

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

Published in:

BMC Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12863-016-0382-5

By:

Kariminejad, Ariana;
Almadani, Navid;
Khoshaeen, Atefeh;
Olsson, Bjorn;
Moslemi, Ali-Reza;
Tajsharghi, Homa

Publication type:

Article

5

First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.

Published in:

European Journal of Ophthalmology, 2021, v. 31, n. 5, p. NP23, doi. 10.1177/1120672120921734

By:

Jalali, Hossein;
Najafi, Mojtaba;
Khoshaeen, Atefeh;
Mahdavi, Mohammad Reza;
Mahdavi, Mahan

Publication type:

Article

6

First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy.

Published in:

2022

By:

Jalali, Hossein;
Khoshaeen, Atefeh;
Mahdavi, Mohammad Reza;
Mahdavi, Mahan

Publication type:

Case Study