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Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.
Published in:
Molecular Syndromology, 2020, v. 11, n. 2, p. 62, doi. 10.1159/000506530
By:
- Farajzadeh Valilou, Saeed;
- alavi, afagh;
- Pashaei, Mahdiyeh;
- Ghasemi Firouzabadi, Saghar;
- Shafeghati, Yousef;
- Nozari, ahoura;
- Hadipour, Fatemeh;
- Hadipour, Zahra;
- Maghsoodlou Estrabadi, Bijan;
- Gholamreza Noorazar, Seyed;
- Banihashemi, Susan;
- Karimian, Javad;
- Fattahi, Mahshid;
- Behjati, Farkhondeh
Publication type:
Article
A Novel Missense Mutation in the TGF-ß-binding Protein-Like Domain 3 of FBN1 Causes Weill-Marchesani Syndrome with Intellectual Disability.
Published in:
Advanced Biomedical Research, 2023, v. 12, n. 4, p. 1, doi. 10.4103/abr.abr_138_22
By:
- Hassani, Mahdieh;
- Taghizadeh, Sara;
- Broujeni, Anahita Farahzad;
- Habibi, Mahvash;
- Banitalebi, Setareh;
- Kasiri, Mahbubeh;
- Sadeghi, Alireza;
- Nozari, Ahoura
Publication type:
Article
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.
Published in:
Cell Journal (Yakhteh), 2019, v. 21, n. 3, p. 337, doi. 10.22074/cellj.2019.6053
By:
- Mohammadzadeh, Akbar;
- Akbaroghli, Susan;
- Aghaei-Moghadam, Ehsan;
- Mahdieh, Nejat;
- Badv, Reza Shervin;
- Jamali, Payman;
- Kariminejad, Roxana;
- Chavoshzadeh, Zahra;
- Firouzabadi, Saghar Ghasemi;
- Ghanaie, Roxana Mansour;
- Nozari, Ahoura;
- Banihashemi, Sussan;
- Hadipour, Fatemeh;
- Hadipour, Zahra;
- Kariminejad, Ariana;
- Najmabadi, Hossein;
- Shafeghati, Yousef;
- Behjati, Farkhondeh
Publication type:
Article
A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.
Published in:
Cell Journal (Yakhteh), 2019, v. 21, n. 1, p. 70, doi. 10.22074/cellj.2019.5734
By:
- Nozari, Ahoura;
- Aghaei-Moghadam, Ehsan;
- Zeinaloo, Aliakbar;
- Alavi, Afagh;
- Firouzabdi, Saghar Ghasemi;
- Minaee, Shohre;
- Hesari, Marzieh Eskandari;
- Behjati, Farkhondeh
Publication type:
Article
Clinical and Molecular Genetic Characterization of a Female with Fragile X Syndrome and Two Expanded Alleles: A Case Report.
Published in:
Journal of Basic Research in Medical Sciences, 2024, v. 11, n. 4, p. 12
By:
- Nozari, Ahoura;
- Hassani, Mahdich;
- Hagh, Javad Karimzad;
- Sadeghi, Alireza;
- Jalilian, Narges
Publication type:
Article

Found: 5

Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.

A Novel Missense Mutation in the TGF-ß-binding Protein-Like Domain 3 of FBN1 Causes Weill-Marchesani Syndrome with Intellectual Disability.

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.

A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.

Clinical and Molecular Genetic Characterization of a Female with Fragile X Syndrome and Two Expanded Alleles: A Case Report.