Detalhe da pesquisa
1.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Am J Hum Genet;
108(11): 2195-2204, 2021 11 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34715011
2.
Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.
Otolaryngol Head Neck Surg;
2024 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38822754
3.
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.
JCI Insight;
7(3)2022 02 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35132964
4.
Usher syndrome: clinical features, molecular genetics and advancing therapeutics.
Ther Adv Ophthalmol;
12: 2515841420952194, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32995707
5.
Impact of sight and hearing loss in patients with Norrie disease: advantages of Dual Sensory clinics in patient care.
BMJ Paediatr Open;
4(1): e000781, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33225082
6.
Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.
Genes (Basel);
10(7)2019 07 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31336982
7.
Consensus Statement of the Indian Academy of Pediatrics on Newborn Hearing Screening.
Indian Pediatr;
54(8): 647-651, 2017 Aug 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28607211
8.
Late postnatal onset of hearing loss due to GJB2 mutations.
Int J Pediatr Otorhinolaryngol;
70(6): 1119-24, 2006 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16469394
9.
The bony cochlear nerve canal in children with absent or hypoplastic cochlear nerves.
Int J Pediatr Otorhinolaryngol;
75(6): 764-73, 2011 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21497917
10.
Subjective visual vertical and horizontal: effect of the preset angle.
Arch Otolaryngol Head Neck Surg;
134(4): 394-401, 2008 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18427005