Detalhe da pesquisa
1.
Prevalence and characteristics of hepatitis delta virus infection in patients with hepatitis B in the United States: An analysis of the All-Payer Claims Database.
Hepatology
; 79(5): 1117-1128, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37976395
2.
Association of hepatitis delta virus with liver morbidity and mortality: A systematic literature review and meta-analysis.
Hepatology
; 79(5): 1129-1140, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37870278
3.
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
J Hum Genet
; 69(3-4): 163-167, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38228874
4.
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.
Genet Res (Camb)
; 2024: 5549592, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38586596
5.
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Am J Med Genet A
; 194(6): e63544, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258498
6.
Patient experiences in ulcerative colitis: conceptual model and review of patient-reported outcome measures.
Qual Life Res
; 33(5): 1373-1387, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38438664
7.
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
J Med Genet
; 60(11): 1127-1132, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37055165
8.
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Genet Mol Biol
; 47(1): e20230285, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488524
9.
The current state of training in pain medicine fellowships: An Association of Pain Program Directors (APPD) survey of program directors.
Pain Pract
; 2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553945
10.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genet Med
; 25(1): 90-102, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318270
11.
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.
J Pediatr
; 252: 56-60.e2, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067875
12.
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Clin Genet
; 103(4): 383-391, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645289
13.
Flushing After Lumbar Epidural Steroid Injection with Dexamethasone.
Curr Pain Headache Rep
; 27(6): 143-148, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37115487
14.
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Genomics
; 114(5): 110468, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36041635
15.
Parental attitudes and beliefs about sexuality of individuals with intellectual disability: Insights from a Brazilian sample of parents of individuals with Williams syndrome.
J Appl Res Intellect Disabil
; 36(6): 1345-1353, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37652693
16.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Hum Mutat
; 43(7): 900-918, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35344616
17.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet
; 105(4): 836-843, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564437
18.
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Am J Hum Genet
; 104(5): 925-935, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982609
19.
Lipid signatures reflect the function of the murine primary placentation.
Biol Reprod
; 106(3): 583-596, 2022 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34850819
20.
Novel CLTC variants cause new brain and kidney phenotypes.
J Hum Genet
; 67(1): 1-7, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230591