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1 . Academic Journal
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
저자
by
Golchin, Neda
;
Hajjari, Mohammadreza
;
Malamiri, Reza Azizi
;
Aminzadeh, Majid
;
Mohammadi-asl, Javad
.
소스
Genetics and Molecular Biology
. December 2017 40(4)
Open Access (SciELO)
Web of Science
Scopus
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7 . Academic Journal
An intelligent prenatal screening system for the prediction of Trisomy-21
저자
by
Jamshidnezhad, Amir
;
Hosseini, Seyed Mohsen
;
Mohammadi-Asl, Javad
;
Mahmudi, Mandana
.
소스
In
Informatics in Medicine Unlocked
2021 24
Full Text (ScienceDirect)
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Scopus
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6 . Academic Journal
A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing
저자
by
Asgharzade, Samira
;
Tabatabaiefar, Mohammad Amin
;
Mohammadi-asl, Javad
;
Chaleshtori, Morteza Hashemzadeh
.
소스
In
International Journal of Pediatric Otorhinolaryngology
May 2018 108:8-11
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6 . Academic Journal
A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred
저자
by
Mohammadi-asl, Javad
;
Pourreza, Mohammad Reza
;
Mohammadi, Aliasgar
;
Eskandari, Ameneh
;
Mozafar-Jalali, Sima
, et al.
소스
In
Journal of Dermatological Science
October 2017 88(1):134-138
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7 . Academic Journal
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity
저자
by
Vahidnezhad, Hassan
;
Youssefian, Leila
;
Saeidian, Amir Hossein
;
Zeinali, Sirous
;
Mansouri, Parvin
, et al.
소스
In
Journal of Investigative Dermatology
March 2017 137(3):678-685
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7 . Academic Journal
The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus.
저자
by
Sabzeghabaiean, Masoud
;
Maleknia, Mohsen
;
Mohammadi-Asl, Javad
;
Kazemi, Hashem
;
Golab, Fereshteh
, et al.
소스
Egyptian Journal of Medical Human Genetics
. 3/26/2024, Vol. 25 Issue 1, p1-13. 13p.
Scopus
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7 . Academic Journal
Retinitis pigmentosa‐1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation.
저자
by
Neissi, Mostafa
;
Sheikh‐Hosseini, Motahareh
;
Mohammadi‐Asl, Javad
.
소스
Clinical Case Reports
. Mar2024, Vol. 12 Issue 3, p1-8. 8p.
Open Access (Wiley)
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5 . Academic Journal
Association of CYP3A4 and CYP3A5 polymorphisms with Iranian breast cancer patients
저자
by
Badavi, Elham
;
Safavi, Babak
;
Jalali, Amir
;
Shahriary, Ghazaleh Mohammadzadeh
;
Mohammadi-Asl, Javad
, et al.
소스
In
Egyptian Journal of Medical Human Genetics
July 2015 16(3):219-225
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7 . Academic Journal
A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss.
저자
by
Neissi, Mostafa
;
Al-Badran, Adnan Issa
;
Mohammadi-Asl, Javad
.
소스
Iranian Journal of Otorhinolaryngology
. Jan2024, Vol. 36 Issue 1, p355-360. 6p.
Scopus
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5 . Periodical
Molecular spectrum and distribution of hemoglobinopathies in southwest of Iran: a seven-year retrospective study
저자
by
Ebrahimi, Mina
;
Mohammadi-asl, Javad
;
Rahim, Fakher
.
소스
Journal of Hematopathology; 20240101, Issue: Preprints p1-7, 7p
Web of Science
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