Detalhe da pesquisa
1.
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
Am J Med Genet A
; 185(6): 1836-1840, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33650182
2.
Low risk of treatment resistance in Down syndrome with Kawasaki disease.
Pediatr Int
; 59(12): 1236-1239, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28960680
3.
De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension.
Ann Hum Genet
; 79(2): 85-91, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25612240
4.
Incidence of febrile seizure in patients with Down syndrome.
Pediatr Int
; 57(4): 670-2, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25676606
5.
Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension.
Genet Med
; 15(12): 941-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23579436
6.
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
J Hum Genet
; 56(2): 110-24, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20981036
7.
Presymptomatic genetic analysis during pregnancy for vascular type Ehlers-Danlos syndrome.
Int Med Case Rep J
; 7: 99-102, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24971038
8.
[Epidemic hepatitis A in Japan: background and actions to be taken].
Nihon Rinsho
; 62 Suppl 8: 448-52, 2004 Aug.
Artigo
em Japonês
| MEDLINE | ID: mdl-15453363
9.
Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization.
Am J Med Genet A
; 143A(11): 1191-7, 2007 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17497725