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Clinical Correlation of Ataxia Telangiectasia-Like Disorder 1 with A Variant of Uncertain Significance in the MRE11 Gene: A Case Report.
Published in:
Reviews in Clinical Medicine, 2024, v. 11, n. 3, p. 20
By:
- Shirvan, Bita Barazandeh;
- Akhondian, Javad;
- Layegh, Parvaneh;
- Hashemi, Narges;
- Karimiani, Ehsan Ghayoor;
- Rezaie, Razie;
- Torbati, Paria Najarzadeh;
- Toosi, Mehran Beiraghi
Publication type:
Article
ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2153
By:
- Ahangari, Najmeh;
- Gholampour‐Faroji, Nazanin;
- Doosti, Mohammad;
- Ghayour Mobarhan, Majid;
- Shahrokhzadeh, Sima;
- Karimiani, Ehsan Ghayoor;
- Hasani‐sabzevar, Bahareh;
- Torbati, Paria Najarzadeh;
- Haddad‐Mashadrizeh, Aliakbar
Publication type:
Article
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2652, doi. 10.1002/ajmg.a.62852
By:
- Musante, Luciana;
- Faletra, Flavio;
- Meier, Kolja;
- Tomoum, Hoda;
- Najarzadeh Torbati, Paria;
- Blair, Edward;
- North, Sally;
- Gärtner, Jutta;
- Diegmann, Susann;
- Beiraghi Toosi, Mehran;
- Ashrafzadeh, Farah;
- Ghayoor Karimiani, Ehsan;
- Murphy, David;
- Murru, Flora Maria;
- Zanus, Caterina;
- Magnolato, Andrea;
- La Bianca, Martina;
- Feresin, Agnese;
- Girotto, Giorgia;
- Gasparini, Paolo
Publication type:
Article
Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of DYSF Gene among Iranians with Muscular Dystrophy.
Published in:
Advanced Biomedical Research, 2023, v. 12, n. 6, p. 1, doi. 10.4103/abr.abr_131_22
By:
- Arab, Fatemeh;
- Ahangari, Najmeh;
- Malek, Hadis;
- Doosti, Mohammad;
- Torbati, Paria Najarzadeh;
- Karimiani, Ehsan Ghayoor
Publication type:
Article
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1345, doi. 10.1002/acn3.51634
By:
- Dafsari, Hormos Salimi;
- Pemberton, Joshua G.;
- Ferrer, Elizabeth A.;
- Yammine, Tony;
- Farra, Chantal;
- Mohammadi, Mohammad Hasan;
- Karimiani, Ehsan Ghayoor;
- Hashemi, Narges;
- Souaid, Mirna;
- Sabbagh, Sandra;
- Torbati, Paria Najarzadeh;
- Khan, Suliman;
- Roze, Emmanuel;
- Moreno-De-Luca, Andres;
- Bertoli-Avella, Aida M.;
- Houlden, Henry;
- Balla, Tamas;
- Maroofian, Reza
Publication type:
Article
Genetic Insights from Consanguineous Cardiomyopathy Families.
Published in:
Genes, 2023, v. 14, n. 1, p. 182, doi. 10.3390/genes14010182
By:
- Maurer, Constance;
- Boleti, Olga;
- Najarzadeh Torbati, Paria;
- Norouzi, Farzaneh;
- Fowler, Anna Nicole Rebekah;
- Minaee, Shima;
- Salih, Khalid Hama;
- Taherpour, Mehdi;
- Birjandi, Hassan;
- Alizadeh, Behzad;
- Salih, Aso Faeq;
- Bijari, Moniba;
- Houlden, Henry;
- Pittman, Alan Michael;
- Maroofian, Reza;
- Almashham, Yahya H.;
- Karimiani, Ehsan Ghayoor;
- Kaski, Juan Pablo;
- Faqeih, Eissa Ali;
- Vakilian, Farveh
Publication type:
Article

Found: 6

Clinical Correlation of Ataxia Telangiectasia-Like Disorder 1 with A Variant of Uncertain Significance in the MRE11 Gene: A Case Report.

ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of DYSF Gene among Iranians with Muscular Dystrophy.

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.

Genetic Insights from Consanguineous Cardiomyopathy Families.