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1.
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
Genet Med;
25(9): 100893, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37179472
2.
Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review.
Nephrology (Carlton);
28(12): 649-654, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37619970
3.
Enzyme replacement therapy desensitization in a child with infantile onset Pompe disease.
Asian Pac J Allergy Immunol;
40(4): 414-417, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-32061243
4.
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
Am J Hum Genet;
99(2): 451-9, 2016 Aug 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27476655
5.
Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-naïve or previously treated with imiglucerase.
Blood Cells Mol Dis;
68: 163-172, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27839981
6.
Williams-Beuren syndrome in diverse populations.
Am J Med Genet A;
176(5): 1128-1136, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29681090
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-26666243
8.
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.
Am J Med Genet A;
170(10): 2632-7, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27151206
9.
Additional individuals with CHD7 variants in Chinese and other southeast Asian patients.
Am J Med Genet A;
182(10): 2461-2465, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32804436
10.
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
Eur J Pediatr;
174(10): 1405-11, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25976726
11.
Left Ventricular Non-compaction: Is It Genetic?
Pediatr Cardiol;
36(8): 1565-72, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26108892
12.
A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase.
Blood Cells Mol Dis;
53(4): 253-60, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24950666
13.
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy.
Fam Cancer;
23(2): 133-140, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38662262
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37090834
15.
Use of deferiprone for iron chelation in patients with transfusion-dependent thalassaemia.
J Paediatr Child Health;
47(11): 812-7, 2011 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-21902752
16.
Implementation of Universal Newborn Screening for Severe Combined Immunodeficiency in Singapore While Continuing Routine Bacille-Calmette-Guerin Vaccination Given at Birth.
Front Immunol;
12: 794221, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35046952
17.
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes.
Arch Dis Child;
106(1): 38-43, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32978145
18.
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.
Arch Dis Child;
106(1): 31-37, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32819910
19.
Amelioration of oxidative stress in red blood cells from patients with beta-thalassemia major and intermedia and E-beta-thalassemia following administration of a fermented papaya preparation.
Phytother Res;
24(9): 1334-8, 2010 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-20127662
20.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32339967