Detalhe da pesquisa
1.
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Am J Hum Genet
; 99(4): 860-876, 2016 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27693233
2.
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.
Am J Med Genet A
; 176(1): 92-98, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29130579
3.
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Am J Hum Genet
; 99(6): 1405, 2016 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27912046
4.
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
J Med Genet
; 50(4): 240-5, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23393310
5.
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
Ann Clin Transl Neurol
; 10(11): 1972-1984, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37632133
6.
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.
Eur J Hum Genet
; 27(9): 1419-1426, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30976113
7.
Brief report: Use and misuse of thyroid ultrasound in the initial workup of patients with suspected thyroid problems referred by primary care physicians to an endocrine clinic.
J Gen Intern Med
; 20(8): 766-8, 2005 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-16050890