Detalhe da pesquisa
1.
Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies.
Proc Natl Acad Sci U S A
; 120(26): e2221744120, 2023 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339214
2.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Am J Hum Genet
; 106(6): 859-871, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470375
3.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Am J Hum Genet
; 101(6): 1006-1012, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198720
4.
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.
Adv Exp Med Biol
; 1185: 233-238, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884617
5.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Am J Hum Genet
; 107(3): 580, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888510
6.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Science
; 384(6694): eadf5489, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662826