Detalhe da pesquisa
1.
Tumor suppression in the absence of p53-mediated cell-cycle arrest, apoptosis, and senescence.
Cell
; 149(6): 1269-83, 2012 Jun 08.
Artigo
Inglês
| MEDLINE | ID: mdl-22682249
2.
Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.
PLoS Genet
; 18(9): e1009923, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36112662
3.
Genetic ablation of Smoothened in pancreatic fibroblasts increases acinar-ductal metaplasia.
Genes Dev
; 30(17): 1943-55, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27633013
4.
RAVAQ: An integrative pipeline from quality control to region-based rare variant association analysis.
Genet Epidemiol
; 46(5-6): 256-265, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35419876
5.
Generation and application of a convolutional neural networks algorithm in evaluating stool consistency in diapers.
Acta Paediatr
; 112(6): 1333-1340, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36843346
6.
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
Ann Neurol
; 90(6): 962-975, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34606115
7.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
J Inherit Metab Dis
; 45(5): 996-1012, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35621276
8.
Intra-rater Variability of the Brussels Infants and Toddlers Stool Scale (BITSS) Using Photographed Stools.
J Pediatr Gastroenterol Nutr
; 75(5): 584-588, 2022 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35948372
9.
Modeling Potential-Dependent Electrochemical Activation Barriers: Revisiting the Alkaline Hydrogen Evolution Reaction.
J Am Chem Soc
; 143(46): 19341-19355, 2021 11 24.
Artigo
Inglês
| MEDLINE | ID: mdl-34752077
10.
Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage.
Reprod Biomed Online
; 42(4): 789-798, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33658156
11.
Safety and Tolerance of a Novel Anti-Regurgitation Formula: A Double-Blind, Randomized, Controlled Trial.
J Pediatr Gastroenterol Nutr
; 73(5): 579-585, 2021 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34417399
12.
Machine Learning Supports Automated Digital Image Scoring of Stool Consistency in Diapers.
J Pediatr Gastroenterol Nutr
; 72(2): 255-261, 2021 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33275399
13.
Rare variant association testing for multicategory phenotype.
Genet Epidemiol
; 43(6): 646-656, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31087445
14.
GEMPROT: visualization of the impact on the protein of the genetic variants found on each haplotype.
Bioinformatics
; 35(14): 2492-2494, 2019 07 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30508040
15.
BRCA1 functions independently of homologous recombination in DNA interstrand crosslink repair.
Mol Cell
; 46(2): 125-35, 2012 Apr 27.
Artigo
Inglês
| MEDLINE | ID: mdl-22445484
16.
Solvation at metal/water interfaces: An ab initio molecular dynamics benchmark of common computational approaches.
J Chem Phys
; 152(14): 144703, 2020 Apr 14.
Artigo
Inglês
| MEDLINE | ID: mdl-32295363
17.
A large-scale study to describe the prevalence, characteristics and management of functional gastrointestinal disorders in African infants.
Acta Paediatr
; 109(11): 2366-2373, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32150302
18.
Functional gastrointestinal disorders in infants: Practice, knowledge and needs of Australian pharmacists.
J Paediatr Child Health
; 56(11): 1769-1773, 2020 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-31183924
19.
ATM loss leads to synthetic lethality in BRCA1 BRCT mutant mice associated with exacerbated defects in homology-directed repair.
Proc Natl Acad Sci U S A
; 114(29): 7665-7670, 2017 07 18.
Artigo
Inglês
| MEDLINE | ID: mdl-28659469
20.
Abrupt involution induces inflammation, estrogenic signaling, and hyperplasia linking lack of breastfeeding with increased risk of breast cancer.
Breast Cancer Res
; 21(1): 80, 2019 07 17.
Artigo
Inglês
| MEDLINE | ID: mdl-31315645