Detalhe da pesquisa
1.
Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation.
Am J Med Genet A
; 188(7): 2135-2138, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35289498
2.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097605
3.
Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event.
J Hum Genet
; 62(7): 711-715, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28331219
4.
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Hum Genomics
; 9: 33, 2015 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26666243
5.
Additional individuals with CHD7 variants in Chinese and other southeast Asian patients.
Am J Med Genet A
; 182(10): 2461-2465, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32804436
6.
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
Prenat Diagn
; 40(2): 276-281, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31736083
7.
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia.
Clin Dysmorphol
; 33(2): 63-68, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38441200
8.
Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1.
J Pediatr Genet
; 12(2): 135-140, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37090834
9.
Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation.
Am J Med Genet A
; 173(2): 550-552, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27759915
10.
Speckled brain lesions in Incontinentia Pigmenti patients with acquired brain syndromes.
Eur J Paediatr Neurol
; 33: 106-111, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34133990
11.
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Eur J Hum Genet
; 29(11): 1663-1668, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413497
12.
Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene.
J Neurol Sci
; 414: 116819, 2020 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32339967
13.
Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
Gene
; 731: 144360, 2020 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31935506
14.
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.
Mol Genet Genomic Med
; 7(4): e00581, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30784236
15.
Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature.
Clin Dysmorphol
; 28(1): 53-56, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30507726
16.
A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage.
Clin Dysmorphol
; 17(1): 73-74, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18049087
17.
Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemia.
Ther Adv Hematol
; 3(5): 299-307, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23616917
18.
A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome.
Gene
; 499(1): 182-5, 2012 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22426292
19.
DICER1 deletion and 14q32 microdeletion syndrome: an additional case and a review of the literature.
Clin Dysmorphol
; 25(1): 37-40, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26513514
20.
Asymptomatic proteinuria, renal cysts and dorsal pancreas agenesis.
Clin Kidney J
; 7(4): 411-2, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25852921