Detalhe da pesquisa
1.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(4): 767-773, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929741
2.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824500
3.
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.
BMC Med Genet
; 21(1): 22, 2020 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32013889
4.
A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report.
BMC Med Genet
; 20(1): 13, 2019 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30642275
5.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(6): 1251, 2019 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173719
6.
A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.
BMC Med Genet
; 18(1): 49, 2017 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28468610
7.
Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene.
Cell J
; 23(5): 593-597, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837688
8.
Identification of novel microsatellite markers flanking GJB2 gene in order to use in preimplantation genetic diagnosis of hearing loss: A comparison of whole-genome amplification and semi-nested PCR.
Eur J Med Genet
; 63(4): 103796, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31669356
9.
A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment.
Front Neurol
; 10: 944, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31551910
10.
A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome.
Front Pediatr
; 5: 169, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28848724