Detalhe da pesquisa
1.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
2.
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Am J Hum Genet
; 101(1): 65-74, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28669405
3.
Monogenic disorders that mimic the phenotype of Rett syndrome.
Neurogenetics
; 19(1): 41-47, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29322350
4.
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
Hum Mutat
; 37(8): 786-93, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120018
5.
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
Am J Med Genet A
; 170A(5): 1330-2, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26834045
6.
Paraoxonase 1 and oxidative stress in paediatric non-alcoholic steatohepatitis.
Liver Int
; 34(1): 110-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24028323
7.
A Validated Stability-Indicating HPLC-PDA Method for Tolnaftate: Identification, Characterization and In Silico Toxicity Predictions of Major Degradation Products.
J Chromatogr Sci
; 61(5): 484-493, 2023 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083001
8.
Information, partisanship, and preferences in a pandemic.
Front Public Health
; 11: 1019206, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36969667
9.
Isolation and characterization of carpaine and dihydroxy derivative of carpaine from leaves of Carica papaya: Development of fast HPLC method and standardization of formulations.
J Chromatogr B Analyt Technol Biomed Life Sci
; 1213: 123533, 2022 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36442395
10.
Bio-enhancement of Soy Isoflavones (Genistein & Daidzein) Using Bacillus coagulans in Letrozole Induced Polycystic Ovarian Syndrome by Regulating Endocrine Hormones in Rats.
Probiotics Antimicrob Proteins
; 14(3): 560-572, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35411448
11.
Isolation, characterization and quantitative HPLC-DAD analysis of components of charantin from fruits of Momordica charantia.
Food Chem
; 345: 128717, 2021 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33307430
12.
Optimization and Validation of HPTLC Method for Estimation of Ulipristal Acetate in Presence of Its Forced Degradation Products.
J Chromatogr Sci
; 58(5): 427-432, 2020 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32163148
13.
Phytochemical Markers: Classification, Applications and Isolation.
Curr Pharm Des
; 25(22): 2491-2498, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31584364
14.
Inappropriate activation of the androgen receptor by nonsteroids: involvement of the Src kinase pathway and its therapeutic implications.
Cancer Res
; 66(21): 10449-59, 2006 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17079466
15.
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Neurology
; 91(22): e2078-e2088, 2018 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30413629
16.
Identification of meckel diverticulum by capsule endoscopy.
J Pediatr Gastroenterol Nutr
; 54(2): 161, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22008954
17.
Enhanced HPLC-DAD Method for Fast Determination of Quercetin-3-O-ß-d-Glucoside in Extracts and Polyherbal Formulations Containing Azadirachta indica-Optimization and Validation.
J Chromatogr Sci
; 55(7): 706-711, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334842
18.
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
JAMA Neurol
; 74(10): 1228-1236, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28806457
19.
Prolapse gastropathy.
J Pediatr Gastroenterol Nutr
; 52(2): 121, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21240013
20.
Effects of SP500263, a novel, potent antiestrogen, on breast cancer cells and in xenograft models.
Cancer Res
; 62(5): 1439-42, 2002 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11888917