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1 . Academic Journal
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences
저자
by
Rene Moya
;
Clémentine Angée
;
Sylvain Hanein
;
Fabienne Jabot-Hanin
;
Josseline Kaplan
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 11, p 6151 (2024)
Open Access (DOAJ)
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7 . Academic Journal
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function
저자
by
Mathilda Bedin
;
Olivia Boyer
;
Aude Servais
;
Yong Li
;
Laure Villoing-Gaudé
, et al.
소스
The Journal of Clinical Investigation, Vol 132, Iss 11 (2022)
Open Access (DOAJ)
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7 . Academic Journal
Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations.
저자
by
Jocelyn Quistrebert
;
Marianna Orlova
;
Gaspard Kerner
;
Le Thi Ton
;
Nguyễn Trong Luong
, et al.
소스
PLoS Genetics, Vol 17, Iss 3, p e1009392 (2021)
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7 . Academic Journal
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort
저자
by
Isabelle Perrault
;
Sylvain Hanein
;
Xavier Gérard
;
Nelson Mounguengue
;
Ryme Bouyakoub
, et al.
소스
Genes, Vol 12, Iss 2, p 287 (2021)
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7 . Academic Journal
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology
저자
by
Athanasia Stoupa
;
Frédéric Adam
;
Dulanjalee Kariyawasam
;
Catherine Strassel
;
Sanjay Gawade
, et al.
소스
EMBO Molecular Medicine, Vol 10, Iss 12, Pp n/a-n/a (2018)
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7 .
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases
저자
by
Kalliopi Chatzovoulou
;
Anne Mayeur
;
Nicolas Cagnard
;
Mohammed Zarhrate
;
Christine Bole
, et al.
소스
Human Reproduction
. 38:992-1002
Full Text (OUP)
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7 .
Association between plasma rituximab concentration and the risk of major relapse in antineutrophil cytoplasmic antibody‐associated vasculitides during rituximab maintenance therapy
저자
by
Nihel Khoudour
;
Florence Delestre
;
Fabienne Jabot–Hanin
;
Anne Jouinot
;
Juliette Nectoux
, et al.
소스
Arthritis & Rheumatology
.
Full Text (Wiley)
Scopus
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7 .
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence
저자
by
Zineb Sbihi
;
Kay Tanita
;
Camille Bachelet
;
Christine Bole
;
Fabienne Jabot-Hanin
, et al.
소스
Journal of Clinical Immunology
Journal of Clinical Immunology, 2022, 42 (3), pp.559-571. ⟨10.1007/s10875-021-01188-z⟩
Open Access (OpenAIRE)
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Scopus
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7 .
Agonists of prostaglandin E 2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies
저자
by
Hugo Garcia
;
Alice S. Serafin
;
Flora Silbermann
;
Esther Porée
;
Amandine Viau
, et al.
소스
Proceedings of the National Academy of Sciences
. 119
Full Text (PNAS)
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Scopus
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7 .
Prostaglandin E1 as therapeutic molecule for Nephronophthisis and related ciliopathies
저자
by
Hugo Garcia
;
Alice Serafin
;
Flora Silbermann
;
Esther Poree
;
Clémentine Mahaut
, et al.
소스
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