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1 . Academic Journal
ST3GAL3 deficiency with autistic behavior: First description of frameshift variant and literature review
저자
by
Manoochehri, Jamal
;
Khamirani, Hossein Jafari
;
Kamal, Neda
;
Shiri, Amirmasoud
;
Aghasipour, Maryam
, et al.
소스
In
Gene Reports
June 2024 35
Full Text (ScienceDirect)
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7 . Academic Journal
Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review
저자
by
Ehsani, Elham
;
Khamirani, Hossein Jafari
;
Abbasi, Zahra
;
Gohari, Mohammadreza
;
Zoghi, Sina
, et al.
소스
In
European Journal of Medical Genetics
August 2022 65(8)
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Web of Science
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7 . Academic Journal
A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review
저자
by
Manoochehri, Jamal
;
Kamal, Neda
;
Khamirani, Hossein Jafari
;
Zoghi, Sina
;
Haghighi, Maryam Fazelzadeh
, et al.
소스
In
European Journal of Medical Genetics
August 2022 65(8)
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7 . Academic Journal
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review
저자
by
Kamal, Neda
;
Khamirani, Hossein Jafari
;
Mohammadi, Sanaz
;
Dastgheib, Seyed Alireza
;
Dianatpour, Mehdi
, et al.
소스
In
European Journal of Medical Genetics
July 2022 65(7)
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7 . Academic Journal
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1
저자
by
Faghihi, Fatemeh
;
Khamirani, Hossein Jafari
;
Zoghi, Sina
;
Kamal, Neda
;
Yeganeh, Babak Shirazi
, et al.
소스
In
European Journal of Medical Genetics
March 2022 65(3)
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7 . Academic Journal
A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature
저자
by
Zoghi, Sina
;
Khamirani, Hossein Jafari
;
Hassanipour, Hamidreza
;
Bostanian, Pardis
;
Masoudian, Reza
, et al.
소스
In
European Journal of Medical Genetics
December 2021 64(12)
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7 . Academic Journal
Phenotype of ST3GAL3 deficient patients: A case and review of the literature
저자
by
Khamirani, Hossein Jafari
;
Zoghi, Sina
;
Faghihi, Fatemeh
;
Dastgheib, Seyed Alireza
;
Hassanipour, Hamidreza
, et al.
소스
In
European Journal of Medical Genetics
August 2021 64(8)
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Full Text (Clinical Key)
Web of Science
Scopus
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7 . Academic Journal
A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant.
저자
by
Anushiravani, Amir
;
Khamirani, Hossein Jafari
;
Mohamadkhani, Ashraf
;
Mani, Arya
;
Dianatpour, Mehdi
, et al.
소스
Archives of Iranian Medicine (AIM)
. Feb2023, Vol. 26 Issue 2, p86-91. 6p.
Web of Science
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7 . Academic Journal
MCM2 mutation causes autosomal dominant nonsyndromic hearing loss (DFNA70): novel variant in the second family.
저자
by
Zeraatpisheh, Zahra
;
Sichani, Ali Saber
;
Kamal, Neda
;
Khamirani, Hossein Jafari
;
Zoghi, Sina
, et al.
소스
Journal of Genetics
. Jun2022, Vol. 101 Issue 1, p1-6. 6p.
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7 . Academic Journal
LIMA1 Gene Knockout by CRISPR/Cas9 System Using Lentiviruses as an in Vitro Model for Reducing Cholesterol Absorption.
저자
by
Talebzadeh, Mahdieh
;
Razban, Vahid
;
Dara, Mahintaj
;
Khamirani, Hossein Jafari
;
Ranjbar, Maryam
, et al.
소스
International Cardiovascular Research Journal; Dec2022, Vol. 16 Issue 4, p129-134, 6p
Scopus
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