Detalhe da pesquisa
1.
GENCODE: reference annotation for the human and mouse genomes in 2023.
Nucleic Acids Res
; 51(D1): D942-D949, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36420896
2.
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Brain
; 146(8): 3513-3527, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917474
3.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Brain
; 145(7): 2602-2616, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104841
4.
A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease.
Am J Hum Genet
; 105(6): 1112-1125, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31708117
5.
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Hum Mutat
; 41(12): 2179-2194, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131181
6.
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
BMC Med Genet
; 21(1): 96, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32381069
7.
A Study on Hereditary Thrombophilia and Stroke in a Cohort from Sri Lanka.
J Stroke Cerebrovasc Dis
; 25(1): 102-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26522268
8.
Analyzing the necessity of prophylactic antibiotic usage in laparoscopy for uncomplicated gynecologic conditions in Sri Lanka.
J Obstet Gynaecol Res
; 41(4): 596-600, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25331108
9.
A Survey of Scientist and Policy Makers' Attitudes Toward Research on Stored Human Biological Materials in Sri Lanka.
Dev World Bioeth
; 15(3): 226-32, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25280225
10.
Clinical and genetic features of Huntington disease in Sri Lanka.
BMC Neurol
; 13: 191, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24314096
11.
Autosomal dominant hereditary ataxia in Sri Lanka.
BMC Neurol
; 13: 39, 2013 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23634774
12.
17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome.
BMC Res Notes
; 8: 506, 2015 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26419729
13.
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.
Clin Dysmorphol
; 29(2): 107-110, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31929336
14.
TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery.
Pediatr Neurol
; 96: 74-75, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30898414
15.
An infant born to a mother with gestational diabetes presenting with 49,XXXXY syndrome and renal agenesis-a case report.
J Clin Res Pediatr Endocrinol
; 4(4): 223-5, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23032147