Suchergebnisse - "Mechaussier, Sabrina"

PubPharm (8)

1

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

enthalten in: Science (New York, N.Y.) | 2024

von Dodd, D. | Mechaussier, S. | Yeyati, P. | +81

2

Single-cell transcriptomic profiling of the mouse cochlea : An atlas for targeted therapies

enthalten in: Proceedings of the National Academy of Sciences of the United States of America | 2023

von Jean, P. | Wong Jun Tai, F. | Singh-Estivalet, A. | +15

3

TUBB4Bvariants specifically impact ciliary function, causing a ciliopathic spectrum

enthalten in: bioRxiv.org | 2023

von Mechaussier, S. | Dodd, D. | Yeyati, P. | +72

4

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

enthalten in: American journal of human genetics | 2020

von Mechaussier, S. | Almoallem, B. | Zeitz, C. | +19

ErratumFor: Am J Hum Genet. 2020 Jun 4;106(6):859-871. - PMID 32470375

5

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

enthalten in: American journal of human genetics | 2020

von Mechaussier, S. | Almoallem, B. | Zeitz, C. | +19

ErratumIn: Am J Hum Genet. 2020 Sep 3;107(3):580. - PMID 32888510

6

Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss

enthalten in: Advances in experimental medicine and biology | 2019

von Mechaussier, S. | Marlin, S. | Kaplan, J. | +2

7

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease

enthalten in: American journal of human genetics | 2017

von Luscan, R. | Mechaussier, S. | Paul, A. | +21

8

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease

enthalten in: American journal of human genetics | 2017

von Luscan, R. | Mechaussier, S. | Paul, A. | +21

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