Detalhe da pesquisa
1.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Am J Hum Genet
; 110(6): 989-997, 2023 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37167966
2.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 143(5): 649-666, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38538918
3.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33144682
4.
Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review.
Am J Med Genet A
; 185(6): 1883-1887, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33779033
5.
Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics.
Cardiovasc Drugs Ther
; 35(3): 549-559, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32623598
6.
Deciphering the DNA code for the function of the Drosophila polydactyl zinc finger protein Suppressor of Hairy-wing.
Nucleic Acids Res
; 45(8): 4463-4478, 2017 05 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28158673
7.
Micropapillary adenocarcinoma of lung: Morphological criteria and diagnostic reproducibility among pulmonary pathologists.
Ann Diagn Pathol
; 41: 43-50, 2019 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-31132651
8.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36745126
9.
A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis.
Am J Med Genet A
; 176(12): 2846-2849, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30549423
10.
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.
Mol Genet Genomic Med
; 10(7): e1966, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35570467
11.
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.
Cold Spring Harb Mol Case Stud
; 6(4)2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32843428
12.
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.
Mol Genet Genomic Med
; 8(9): e1341, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32597037
13.
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1.
JIMD Rep
; 53(1): 22-28, 2020 May.
Artigo
Inglês
| MEDLINE | ID: mdl-32395406
14.
Correlation Between Programmed Death Receptor-1 Expression in Tumor-Infiltrating Lymphocytes and Programmed Death Ligand-1 Expression in Non-Small Cell Lung Carcinoma.
Arch Pathol Lab Med
; 142(11): 1388-1393, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29431467
15.
A Critical Review of Repurposing Apomorphine for Smoking Cessation.
Assay Drug Dev Technol
; 13(10): 612-22, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26690764