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.
Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.
Australas J Dermatol
; 64(4): e327-e332, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452458
3.
Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation.
Am J Med Genet A
; 188(7): 2135-2138, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35289498
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.
Self-improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia.
Am J Med Genet A
; 185(2): 625-630, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33258232
6.
Innate Immune and Neuronal Genetic Markers Are Highly Predictive of Postoperative Pain and Morphine Patient-Controlled Analgesia Requirements in Indian but Not Chinese or Malay Hysterectomy Patients.
Pain Med
; 22(11): 2648-2660, 2021 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34015137
7.
Review and Consensus on Pharmacogenomic Testing in Psychiatry.
Pharmacopsychiatry
; 54(1): 5-17, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33147643
8.
CARD14-associated papulosquamous eruption (CAPE) in a toddler responding to treatment with acitretin.
Pediatr Dermatol
; 38(4): 970-972, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34075616
9.
Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.
Pediatr Dermatol
; 38(4): 908-912, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34152038
10.
Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.
Am J Med Genet A
; 182(2): 296-302, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31846207
11.
Analysis of SCN9A Gene Variants for Acute and Chronic Postoperative Pain and Morphine Consumption After Total Hysterectomy.
Pain Med
; 21(11): 2642-2649, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32403129
12.
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
Am J Hum Genet
; 99(2): 451-9, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27476655
13.
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
14.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097605
15.
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
16.
Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event.
J Hum Genet
; 62(7): 711-715, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28331219
17.
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
18.
Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa.
Australas J Dermatol
; 63(4): e365-e369, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36057924
19.
A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome.
Cleft Palate Craniofac J
; 54(4): 442-445, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27243668
20.
Clinical application of next-generation sequencing for Mendelian diseases.
Hum Genomics
; 9: 10, 2015 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26076878