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1 . Academic Journal
P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids
저자
by
Hassan Saei
;
Marie Boisson
;
Christelle Arrondel
;
Bruno Estebe
;
Nicolas Cagnard
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101032- (2024)
Full Text (Clinical Key)
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7 . Academic Journal
P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases
저자
by
Hassan Saei
;
Jessica Kachmar
;
Vincent Morinière
;
Laurence Heidet
;
Olivier Gribouval
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101065- (2024)
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7 . Academic Journal
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease
저자
by
Hassan Saei
;
Vincent Morinière
;
Laurence Heidet
;
Olivier Gribouval
;
Said Lebbah
, et al.
소스
iScience, Vol 26, Iss 7, Pp 107171- (2023)
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Web of Science
Scopus
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7 . Academic Journal
Rapid Methodologies for Assessing Pseudomonas syringae pv. actinidiae Colonization and Effector-Mediated Hypersensitive Response in Kiwifruit
저자
by
Jay Jayaraman
;
Abhishek Chatterjee
;
Shannon Hunter
;
Ronan Chen
;
Erin A. Stroud
, et al.
소스
Molecular Plant-Microbe Interactions, Vol 34, Iss 8, Pp 880-890 (2021)
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7 . Academic Journal
Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome
저자
by
Maryam Eghbali
;
Kiyana Sadat Fatemi
;
Shadab Salehpour
;
Maryam Abiri
;
Hassan Saei
, et al.
소스
Frontiers in Genetics, Vol 11 (2021)
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7 .
A wave of deep intronic mutations in X-linked Alport Syndrome
저자
by
Marie Boisson
;
Christelle Arrondel
;
Nicolas Cagnard
;
Vincent Morinière
;
Zaïna Aït Arkoub
, et al.
소스
Kidney International
.
Scopus
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7 .
Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract
저자
by
Neda Jabbarpour
;
Hassan Saei
;
Mohammad Hossein Jabbarpoor Bonyadi
;
Mortaza Bonyadi
.
소스
Ophthalmic Genetics
. 43:609-614
Web of Science
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6 .
Identification of a novel mutation in the HACD1 gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion
저자
by
Neda Jabbarpour
;
Bita Poorshiri
;
Hassan Saei
;
Mohammad Barzegar
;
Mortaza Bonyadi
.
소스
Journal of Genetics
. 102
Scopus
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7 .
Rapid Methodologies for AssessingPseudomonas syringaepv.actinidiaeColonization and Effector-Mediated Hypersensitive Response in Kiwifruit
저자
by
Hassan Saei
;
Jibran Tahir
;
Shannon Hunter
;
Erin A. Stroud
;
Matthew D. Templeton
, et al.
소스
Molecular Plant-Microbe Interactions®
. 34:880-890
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Identification of a homozygous mutation in the ABHD5 gene in two non-consanguineous Iranian-Azari Turkish families with Chanarin-Dorfman syndrome
저자
by
Hassan Saei
;
Neda Jabbarpour
;
Afsaneh Radmehr
;
Mortaza Bonyadi
.
소스
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