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Advances in Experimental Medicine and Biology
|
December 30, 2019
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss
Sabrina Mechaussier, Sandrine Marlin, Josseline Kaplan, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 20, 2023
Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies
Philippe Jean, Fabienne Wong Jun Tai, Amrit Singh-Estivalet, et al.
American Journal of Human Genetics
|
May 30, 2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Sabrina Mechaussier, Basamat Almoallem, Christina Zeitz, et al.
American Journal of Human Genetics
|
September 5, 2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Sabrina Mechaussier, Basamat Almoallem, Christina Zeitz, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
|
February 18, 2025
Deciphering Auditory Hyperexcitability in Otogl Mutant Mice Unravels an Auditory Neuropathy Mechanism
Mathilde Gagliardini, Sabrina Mechaussier, Carolina Campos Pina, et al.
American Journal of Human Genetics
|
December 5, 2017
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease
Romain Luscan, Sabrina Mechaussier, Antoine Paul, et al.
Science (New York, N.Y.)
|
April 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, et al.
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Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
Advances in Experimental Medicine and Biology
|
December 30, 2019
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss
Sabrina Mechaussier, Sandrine Marlin, Josseline Kaplan, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 20, 2023
Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies
Philippe Jean, Fabienne Wong Jun Tai, Amrit Singh-Estivalet, et al.
American Journal of Human Genetics
|
May 30, 2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Sabrina Mechaussier, Basamat Almoallem, Christina Zeitz, et al.
American Journal of Human Genetics
|
September 5, 2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Sabrina Mechaussier, Basamat Almoallem, Christina Zeitz, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
|
February 18, 2025
Deciphering Auditory Hyperexcitability in Otogl Mutant Mice Unravels an Auditory Neuropathy Mechanism
Mathilde Gagliardini, Sabrina Mechaussier, Carolina Campos Pina, et al.
American Journal of Human Genetics
|
December 5, 2017
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease
Romain Luscan, Sabrina Mechaussier, Antoine Paul, et al.
Science (New York, N.Y.)
|
April 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, et al.
Page
of 1