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.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337
3.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet
; 98(2): 373-81, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833328
4.
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
5.
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
Am J Hum Genet
; 96(4): 623-30, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25817014
6.
Williams-Beuren syndrome in diverse populations.
Am J Med Genet A
; 176(5): 1128-1136, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681090
7.
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
8.
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Am J Hum Genet
; 92(6): 927-34, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23664117
9.
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
10.
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
11.
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
Eur J Pediatr
; 174(10): 1405-11, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25976726
12.
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
13.
Left Ventricular Non-compaction: Is It Genetic?
Pediatr Cardiol
; 36(8): 1565-72, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26108892
14.
An osteosclerotic form of Robinow syndrome.
Am J Med Genet A
; 164A(10): 2638-42, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25045061
15.
Association of trisomy 18 with hepatoblastoma and its implications.
Eur J Pediatr
; 173(12): 1595-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23975412
16.
Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.
Eur J Pediatr
; 173(3): 387-91, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24146167
17.
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
18.
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
19.
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
20.
Use of deferiprone for iron chelation in patients with transfusion-dependent thalassaemia.
J Paediatr Child Health
; 47(11): 812-7, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21902752