Detalhe da pesquisa
1.
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.
Am J Med Genet A
; 194(2): 358-362, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37799085
2.
Monozygotic twins with identical premature timing of acne onset: A Case report.
Australas J Dermatol
; 64(3): e229-e232, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37387304
3.
Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.
Am J Med Genet A
; 188(12): 3482-3491, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36156406
4.
Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature.
Am J Med Genet A
; 188(9): 2732-2737, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35801299
5.
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Genet Med
; 23(6): 1158-1162, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531666
6.
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
Am J Med Genet A
; 182(9): 2010-2020, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32657013
7.
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
8.
A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia.
J Genet Couns
; 27(1): 21-32, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28699126
9.
Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases.
Am J Med Genet A
; 188(2): 672-675, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34738299
10.
Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant.
Am J Med Genet A
; 182(3): 576-578, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833200
11.
Left Ventricular Non-compaction: Is It Genetic?
Pediatr Cardiol
; 36(8): 1565-72, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26108892
12.
To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening.
Clin Dysmorphol
; 33(1): 43-49, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37865865
13.
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.
Sci Rep
; 14(1): 5056, 2024 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38424111
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37090834
15.
DEGS1 -related leukodystrophy: a clinical report and review of literature.
Clin Dysmorphol
; 32(3): 106-111, 2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195341
16.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32978145
17.
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.
Arch Dis Child
; 106(1): 31-37, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32819910
18.
Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.
Eur J Med Genet
; 63(2): 103652, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30986546
19.
DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEW.
Int J Infect Dis
; 97: 117-125, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497805
20.
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Nat Commun
; 11(1): 595, 2020 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32001716