Detalhe da pesquisa
1.
Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.
Epilepsy Behav
; 145: 109266, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37385119
2.
Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.
J Med Genet
; 59(3): 220-229, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33526602
3.
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.
J Hum Genet
; 67(3): 169-173, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34531528
4.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
J Inherit Metab Dis
; 45(4): 769-781, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279850
5.
Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low-to-middle income Asian country.
J Genet Couns
; 31(5): 1080-1089, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35481858
6.
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
Genet Med
; 18(5): 483-93, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26204423
7.
Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome.
Jpn J Clin Oncol
; 44(5): 506-11, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24683199
8.
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Eur J Hum Genet
; 2023 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36973392
9.
Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant.
J Clin Invest
; 132(23)2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36282599
10.
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
PLoS One
; 17(11): e0268149, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413568
11.
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.
J Inherit Metab Dis
; 33 Suppl 3: S489-95, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21161389
12.
Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.
Genes Genomics
; 41(8): 885-893, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31028654
13.
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
Orphanet J Rare Dis
; 14(1): 143, 2019 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31200731
14.
Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients.
Pediatr Neonatol
; 59(4): 397-403, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29203193
15.
Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.
J Mol Diagn
; 19(2): 265-276, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087349
16.
Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.
J Pediatr Gastroenterol Nutr
; 52(1): 113-6, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21119539
17.
Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges.
J Pediatr Endocrinol Metab
; 29(9): 1031-9, 2016 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27544719
18.
FAT1 mutations cause a glomerulotubular nephropathy.
Nat Commun
; 7: 10822, 2016 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26905694
19.
Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.
Pediatr Neurol
; 49(3): 185-90, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23835273
20.
Clinical features and respiratory complications in Myhre syndrome.
Eur J Med Genet
; 54(6): e553-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21816239