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Delmaghani, Sedigheh
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1

Clarin-2 gene supplementation durably preserves hearing in ..:

Mendia, Clara ; Peineau, Thibault ; Zamani, Mina...
Molecular Therapy.  32 (2024)  3 - p. 800-817 , 2024
Link: https://doi.org/10.1016/..
 
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2

The genetic and phenotypic landscapes of Usher syndrome: fr..:

Delmaghani, Sedigheh ; El-Amraoui, Aziz
Human Genetics.  141 (2022)  3-4 - p. 709-735 , 2022
Link: https://doi.org/10.1007/..
 
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3

Ultrarare heterozygous pathogenic variants of genes causing..:

Boucher, Sophie ; Tai, Fabienne Wong Jun ; Delmaghani, Sedigheh...
Proceedings of the National Academy of Sciences.  117 (2020)  49 - p. 31278-31289 , 2020
Link: https://doi.org/10.1073/..
 
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4

Ultrarare heterozygous pathogenic variants of genes causing..:

Boucher, Sophie ; Tai, Fabienne Wong Jun ; Delmaghani, Sedigheh...
Proceedings of the National Academy of Sciences of the United States of America.  117 (2020)  49 - p. 31278-31289 , 2020
Link: https://www.jstor.org/st..
 
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5

Inner Ear Gene Therapies Take Off: Current Promises and Fut..:

Delmaghani, Sedigheh ; El-Amraoui, Aziz
Journal of Clinical Medicine.  9 (2020)  7 - p. 2309 , 2020
Link: https://doi.org/10.3390/..
 
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6

Clarin‐2 is essential for hearing by maintaining stereocili..:

Dunbar, Lucy A ; Patni, Pranav ; Aguilar, Carlos...
EMBO Molecular Medicine.  11 (2019)  9 - p. , 2019
Link: https://doi.org/10.15252..
 
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7

Pejvakin-mediated pexophagy protects auditory hair cells ag..:

Defourny, Jean ; Aghaie, Alain ; Perfettini, Isabelle...
Proceedings of the National Academy of Sciences.  116 (2019)  16 - p. 8010-8017 , 2019
Link: https://doi.org/10.1073/..
 
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8

Pejvakin-mediated pexophagy protects auditory hair cells ag..:

Defourny, Jean ; Aghaie, Alain ; Perfettini, Isabelle...
Proceedings of the National Academy of Sciences of the United States of America.  116 (2019)  16 - p. 8010-8017 , 2019
Link: https://www.jstor.org/st..
 
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9

Hypervulnerability to Sound Exposure through Impaired Adapt..:

Delmaghani, Sedigheh ; Defourny, Jean ; Aghaie, Asadollah...
Cell.  163 (2015)  4 - p. 894-906 , 2015
Link: https://doi.org/10.1016/..
 
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10

Defect in the gene encoding the EAR/EPTP domain-containing ..:

Delmaghani, Sedigheh ; Aghaie, Asadollah ; Michalski, Nicolas...
Human Molecular Genetics.  21 (2012)  17 - p. 3835-3844 , 2012
Link: https://doi.org/10.1093/..
 
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11

Mutations in the gene encoding pejvakin, a newly identified..:

Delmaghani, Sedigheh ; del Castillo, Francisco J ; Michel, Vincent...
Nature Genetics.  38 (2006)  7 - p. 770-778 , 2006
Link: https://doi.org/10.1038/..
 
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12

Loss-of-function mutations in FGFR1 cause autosomal dominan..:

Dodé, Catherine ; Levilliers, Jacqueline ; Dupont, Jean-Michel...
Nature Genetics.  33 (2003)  4 - p. 463-465 , 2003
Link: https://doi.org/10.1038/..
 
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13

Déficience auditive induite par le bruit : comment peut-ell..:

Delmaghani, Sedigheh ; El-Amraoui, Aziz
pasteur-03926925.  , 2022
Link: https://pasteur.hal.scie..
 
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14

The genetic and phenotypic landscapes of Usher syndrome: fr..:

Delmaghani, Sedigheh ; El-Amraoui, Aziz
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-022-02448-7.  , 2022
Link: https://pasteur.hal.scie..
 
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15

The genetic and phenotypic landscapes of Usher syndrome: fr..:

Delmaghani, Sedigheh ; El-Amraoui, Aziz
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-022-02448-7.  , 2022
Link: https://pasteur.hal.scie..
 
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