Detalhe da pesquisa
1.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
2.
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Hum Mutat
; 43(10): 1347-1353, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35731190
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(4): 860-876, 2016 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693233
4.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(6): 1164, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087166
5.
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Am J Med Genet A
; 170(8): 2173-6, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27250579
6.
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
em Inglês
| MEDLINE | ID: mdl-27912046
7.
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
J Clin Invest
; 131(7)2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33539324
8.
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Mol Genet Metab Rep
; 25: 100677, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33294372
9.
Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Mol Genet Metab Rep
; 15: 80-89, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30009132
10.
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
Eur J Hum Genet
; 26(3): 407-419, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29343804
11.
Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.
Eur J Med Genet
; 59(4): 257-62, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26689622
12.
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.
Neuromuscul Disord
; 26(3): 236-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26782017
13.
Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.
Eur J Paediatr Neurol
; 18(3): 338-46, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24529875