Detalhe da pesquisa
1.
Joint Linkage and Association Analysis Using GENEHUNTER-MODSCORE with an Application to Familial Pancreatic Cancer.
Hum Hered
; 89(1): 8-31, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38198765
2.
First mitochondrial genome-wide association study with metabolomics.
Hum Mol Genet
; 31(19): 3367-3376, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34718574
3.
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Am J Hum Genet
; 106(2): 246-255, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004447
4.
EGFR and MMP-9 are associated with neointimal hyperplasia in systemic-to-pulmonary shunts in children with complex cyanotic heart disease.
Mamm Genome
; 34(2): 285-297, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36867212
5.
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers.
Mov Disord
; 38(4): 604-615, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788297
6.
Solubility and Thermodynamic Investigation of Meta-Autunite Group Uranyl Arsenate Solids with Monovalent Cations Na and K.
Environ Sci Technol
; 57(1): 255-265, 2023 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36525634
7.
Removal of Aqueous Uranyl and Arsenate Mixtures after Reaction with Limestone, PO43-, and Ca2.
Environ Sci Technol
; 57(49): 20881-20892, 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38019567
8.
Kinetics of Na- and K- uranyl arsenate dissolution.
Chem Geol
; 6362023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37601980
9.
Interfacial Interactions of Uranium and Arsenic with Microplastics: From Field Detection to Controlled Laboratory Tests.
Environ Eng Sci
; 40(11): 562-573, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981952
10.
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study.
Mov Disord
; 37(4): 857-864, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997937
11.
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited.
Mov Disord
; 37(9): 1929-1937, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35810454
12.
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
Am J Hum Genet
; 103(1): 74-88, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961571
13.
Identification of Restless Legs Syndrome Genes by Mutational Load Analysis.
Ann Neurol
; 87(2): 184-193, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31788832
14.
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.
Hum Mol Genet
; 27(4): 706-715, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315381
15.
Effect of Bicarbonate, Calcium, and pH on the Reactivity of As(V) and U(VI) Mixtures.
Environ Sci Technol
; 54(7): 3979-3987, 2020 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32176846
16.
Common coding variant in SERPINA1 increases the risk for large artery stroke.
Proc Natl Acad Sci U S A
; 114(14): 3613-3618, 2017 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28265093
17.
Understanding the role of genetic variability in LRRK2 in Indian population.
Mov Disord
; 34(4): 496-505, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30485545
18.
Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis.
Gut
; 67(10): 1855-1863, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28754779
19.
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Hum Genet
; 137(5): 389-400, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754270
20.
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
Am J Hum Genet
; 96(6): 883-93, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26004199