Mohammad Doosti - Faculty of Agriculture, Ferdowsi University of Mashhad

基本信息

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职业迁徙

个人简介

Molecular Genetics (rare disorders)

研究兴趣

论文共 50 篇作者统计合作学者相似作者

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Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies

Paria Najarzadeh Torbati,Mohammad Doosti,Payam Sarraf,Reza Boostani,Najmeh Ahangari,Mehran Beiraghi Toosi,Abbas Tafakhori,Meisam Babaei,Soheila Abedini,Hadis Malek,Samaneh Maskani,Mojtaba Safi,

Iranian Journal of Public Health (2024)

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Diagnosis of Different Types of Early Infantile Epileptic Encephalopathies with Whole Exome Sequencing: A Three-Year Cohort Study

Paria Najarzadeh Torbati, Ehsan Ghayoor,Mohammad Doosti,Najmeh Ahangari,Farah Ashrafzadeh,Javad Akhondian,Mehran Beiraghi Toosi,Mojtaba Safi,Soheila Abedini,Hadis Malek, Masoumeh Rahmani,Samaneh Maskani,

Authorea (Authorea) (2023)

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ECEL1 Novel Mutation in Arthrogryposis Type 5D: A Molecular Dynamic Simulation Study

Najmeh Ahangari,Nazanin Gholampour-Faroji,Mohammad Doosti,Majid Ghayour Mobarhan,Sima Shahrokhzadeh,Ehsan Ghayoor Karimiani,Bahareh Hasani-sabzevar,Paria Najarzadeh Torbati,Aliakbar Haddad-Mashadrizeh

MOLECULAR GENETICS & GENOMIC MEDICINE（2023）

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The Clinical and Genetic Spectrum of Autosomal-Recessive TOR1A-related Disorders

Afshin Saffari,Tracy Lau,Homa Tajsharghi,Ehsan Ghayoor Karimiani,Ariana Kariminejad,Stephanie Efthymiou,Giovanni Zifarelli,Tipu Sultan,Mehran Beiraghi Toosi,Sahar Sedighzadeh,Victoria Mok Siu,Juan Dario Ortigoza-Escobar,

BRAIN（2023）

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

Fatemeh Arab,Najmeh Ahangari,Hadis Malek,Mohammad Doosti,Paria Najarzadeh Torbati,Ehsan Ghayoor Karimiani

Advanced Biomedical Research（2023）

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Biallelic Variants in KITLG Cause Waardenburg Syndrome Type 2, Albinism-Deafness Syndrome and Oculocutaneous Albinism

Katta Girisha,Barbara Vona, Daniel Schwartzbaum,Alejandro A. Rodriguez, Solange S. Lewis,Mehran Beiraghi Toosi,Periyasamy Radhakrishnan,Nazim Bozan,Ramazan Akin,Mohammad Doosti, Ramachandran Manju,Duygu Duman,

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 369-369

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Biallelic pathogenic variants in COL9A3 confirm autosomal recessive stickler syndrome

Aboulfazl Rad,Maryam Najafi,Fatemeh Suri,Stephen Loum,Ehsan Ghayoor Karimiani,David Murphy,Mohammad Doosti,Narsis Daftarian,Paria Najarzadeh Torbati,Afrooz Moghaddasi,Hamid Ahmadieh,Mohsen Rajati,

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Identification of Three Novel Homozygous Variants in COL9A3 Causing Autosomal Recessive Stickler Syndrome

Rad Aboulfazl,Najafi Maryam,Suri Fatemeh,Abedini Soheila,Loum Stephen,Karimiani Ehsan Ghayoor,Daftarian Narsis,Murphy David,Doosti Mohammad,Moghaddasi Afrooz,Ahmadieh Hamid,Sabbaghi Hamideh,

Orphanet Journal of Rare Diseases（2022）

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Biallelic KITLG Variants Lead to a Distinct Spectrum of Hypomelanosis and Sensorineural Hearing Loss

B. Vona, D. A. Schwartzbaum, A. A. Rodriguez, S. S. Lewis,M. B. Toosi,P. Radhakrishnan,N. Bozan,R. Akin,M. Doosti, R. Manju,D. Duman, C. J. Sineni,

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY（2022）

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A Novel Heterozygous ACAN Variant in an Iranian Family with Short Stature: A Case Report

Amirsaeed Aghabozorgi,Najmeh Ahangari,Moein Mobini,Rahim Vakili,Mohammad Doosti,Saba Vakili,Ehsan Karimiani

International Journal of Pediatrics（2022）

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