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.
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
3.
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
4.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337
5.
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
6.
Turner syndrome in diverse populations.
Am J Med Genet A
; 182(2): 303-313, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31854143
7.
Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.
Genet Med
; 21(1): 207-212, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961769
8.
Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.
Genet Med
; 20(12): 1692, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30089799
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.
Clinical application of next-generation sequencing for Mendelian diseases.
Hum Genomics
; 9: 10, 2015 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26076878
11.
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
12.
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
Eur J Pediatr
; 174(10): 1405-11, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25976726
13.
Left Ventricular Non-compaction: Is It Genetic?
Pediatr Cardiol
; 36(8): 1565-72, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26108892
14.
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
15.
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
16.
Therapeutics in paediatric genetic diseases: Current and future landscape.
Singapore Med J
; 64(1): 7-16, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36722512
17.
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
18.
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
JAMA Netw Open
; 6(10): e2339571, 2023 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37878314
19.
A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.
J AAPOS
; 27(6): 359-363, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37931836
20.
Use of deferiprone for iron chelation in patients with transfusion-dependent thalassaemia.
J Paediatr Child Health
; 47(11): 812-7, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21902752