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1 . Academic Journal
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
저자
by
Nejat Mahdieh
;
Morteza Heidari
;
Zahra Rezaei
;
Ali Reza Tavasoli
;
Sareh Hosseinpour
, et al.
소스
Human Genomics, Vol 18, Iss 1, Pp 1-18 (2024)
Open Access (BioMed Central)
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Web of Science
Scopus
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7 . Academic Journal
Hsa-miR-194-5p and hsa-miR-195-5p are down-regulated expressed in high dysplasia HPV-positive Pap smear samples compared to normal cytology HPV-positive Pap smear samples
저자
by
Ali Dehghani
;
Fardin Khajepour
;
Mohammad Dehghani
;
Ehsan Razmara
;
Mohammadreza Zangouey
, et al.
소스
BMC Infectious Diseases, Vol 24, Iss 1, Pp 1-13 (2024)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
123VCF: an intuitive and efficient tool for filtering VCF files
저자
by
Milad Eidi
;
Samaneh Abdolalizadeh
;
Soheila Moeini
;
Masoud Garshasbi
;
Javad Zahiri
.
소스
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-7 (2024)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
저자
by
Ahmad Daneshi
;
Masoud Garshasbi
;
Mohammad Farhadi
;
Khalil Ghasemi Falavarjani
;
Mohammad Vafaee-Shahi
, et al.
소스
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-22 (2023)
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7 . Academic Journal
Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report
저자
by
Elham Salehi Siavashani
;
Mahmoud Reza Ashrafi
;
Homa Ghabeli
;
Morteza Heidari
;
Masoud Garshasbi
.
소스
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-6 (2023)
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7 . Academic Journal
Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report
저자
by
Fatemeh Bitarafan
;
Mehrnoosh Khodaeian
;
Fatemeh Garrousi
;
Raziyeh Khalesi
;
Donya Ghazi Nader
, et al.
소스
BMC Endocrine Disorders, Vol 23, Iss 1, Pp 1-10 (2023)
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7 . Academic Journal
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients
저자
by
Ali Zare Dehnavi
;
Maryam Bemanalizadeh
;
Seyyed Mohammad Kahani
;
Mahmoud Reza Ashrafi
;
Mohammad Rohani
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-18 (2023)
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7 . Academic Journal
Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers
저자
by
Mohammad Farid Mohammadi
;
Sahand Tehrani Fateh
;
Hadi Aghajani
;
Afshin Bahramy
;
Seyed Mohammad Salar Zaheryani
, et al.
소스
Clinical Case Reports, Vol 11, Iss 10, Pp n/a-n/a (2023)
Open Access (Wiley)
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7 . Academic Journal
The genetic landscape and possible therapeutics of neurofibromatosis type 2
저자
by
Mohammad Amin Ghalavand
;
Alimohamad Asghari
;
Mohammad Farhadi
;
Farzad Taghizadeh-Hesary
;
Masoud Garshasbi
, et al.
소스
Cancer Cell International, Vol 23, Iss 1, Pp 1-27 (2023)
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7 . Academic Journal
Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report
저자
by
Safoura Zardadi
;
Ehsan Razmara
;
Maryam Rasoulinezhad
;
Meisam Babaei
;
Mohammad Reza Ashrafi
, et al.
소스
BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)
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