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1.
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.
Article
in English
| MEDLINE | ID: mdl-33526602
2.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Hum Mutat
; 42(1): 50-65, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33131168
3.
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
Clin Genet
; 100(6): 722-730, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34569062
4.
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
J Hum Genet
; 65(9): 751-757, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32405030
5.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Article
in English
| MEDLINE | ID: mdl-31530938
6.
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.
Article
in English
| MEDLINE | ID: mdl-31200731
7.
PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.
Epilepsia Open
; 3(4): 495-502, 2018 Dec.
Article
in English
| MEDLINE | ID: mdl-30525118
8.
Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.
Gene
; 533(1): 240-5, 2014 Jan 01.
Article
in English
| MEDLINE | ID: mdl-24103480
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