Detalhe da pesquisa
1.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815299
2.
Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing.
Int Heart J
; 59(5): 1180-1185, 2018 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158381
3.
Genetic counselling for at-risk family members with hereditary transthyretin amyloidosis: data from a single-centre study.
Amyloid
; : 1-5, 2024 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38795075
4.
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1.
Neurol Genet
; 9(1): e200047, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36530220
5.
A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.
Int J Hematol
; 114(2): 286-291, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33759087
6.
Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials.
Mol Genet Metab Rep
; 25: 100643, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32983894
7.
A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.
Hum Genome Var
; 4: 17052, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29081981
8.
The performance verification of an evolutionary canonical particle swarm optimizer.
Neural Netw
; 23(4): 510-6, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20346858