Detalhe da pesquisa
1.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
2.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 338-355, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109419
3.
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Am J Hum Genet
; 105(5): 933-946, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607427
4.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Am J Hum Genet
; 103(2): 305-316, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057029
5.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Am J Hum Genet
; 101(5): 768-788, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100089
6.
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
Hum Mol Genet
; 26(3): 519-526, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28053047
7.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Am J Hum Genet
; 98(5): 981-992, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108798
8.
Bilateral NAION and GPIbα gene.
BMC Ophthalmol
; 19(1): 5, 2019 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30616677
9.
Infection in cirrhosis: A prospective study.
Ann Hepatol
; 18(6): 862-868, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31635968
10.
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.
Am J Med Genet A
; 176(5): 1108-1114, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383814
11.
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Epilepsia
; 58(4): 565-575, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28166369
12.
Conus Myelitis Associated with COVID-19 Infection- Report of a Case.
J Assoc Physicians India
; 69(6): 11-12, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34472794
13.
Chitosan-heparin polyelectrolyte multilayers on cortical bone: periosteum-mimetic, cytophilic, antibacterial coatings.
Biotechnol Bioeng
; 110(2): 609-18, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22903591
14.
In vitro assessment of the broad-spectrum ultraviolet protection of clothing.
J Am Acad Dermatol
; 79(2): 373-375, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29317283
15.
Michler's Ketone: ß-Cyclodextrin Host-Guest Inclusion Complex for Enhancing the Ultraviolet Protection Factor of Poplin Cotton Fabric.
Photochem Photobiol
; 98(6): 1284-1292, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35302648
16.
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.
Sci Rep
; 12(1): 5215, 2022 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338222
17.
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Ophthalmic Genet
; 43(6): 809-816, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695497
18.
Phenotypes of 8q13.2-q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome.
Am J Med Genet A
; 170(3): 804-8, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26663483
19.
Evaluation of the serum catalase and myeloperoxidase activities in chronic arsenic-exposed individuals and concomitant cytogenetic damage.
Toxicol Appl Pharmacol
; 249(1): 47-54, 2010 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20732340
20.
Mutagenic, Genotoxic and Immunomodulatory effects of Hydroxychloroquine and Chloroquine: a review to evaluate its potential to use as a prophylactic drug against COVID-19.
Genes Environ
; 42: 25, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32884603