Detalhe da pesquisa
1.
Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy.
Am J Hum Genet
; 110(10): 1616-1627, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802042
2.
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
N Engl J Med
; 387(23): 2150-2158, 2022 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351280
3.
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumor-only versus paired tumor-normal sequencing.
Haematologica
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385299
4.
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.
Hum Genet
; 140(4): 681-690, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389145
5.
Cell-Free Exploration of the Natural Product Chemical Space.
Chembiochem
; 22(1): 84-91, 2021 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32783358
6.
Synthesis of Biologically Active Heterospirocycles through Iterative 1,3-Dipolar Cycloaddition Pathways.
J Org Chem
; 86(1): 1223-1230, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33316159
7.
Making heads or tails - the emergence of capicua (CIC) as an important multifunctional tumour suppressor.
J Pathol
; 250(5): 532-540, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32073140
8.
Survey of the Preparation of Cardiovascular Emergency Medications for Adult Cardiovascular Anesthesia.
J Cardiothorac Vasc Anesth
; 35(6): 1813-1820, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33020001
9.
TRIM25 promotes Capicua degradation independently of ERK in the absence of ATXN1L.
BMC Biol
; 18(1): 154, 2020 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33115448
10.
Developing patient resources to enable the exchange of healthy lifestyle information between clinicians and families of children with complex heart problems.
Child Care Health Dev
; 47(3): 357-366, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432602
11.
Pseudoaneurysm formation and rupture after stereotactic radiotherapy for cerebral arteriovenous malformation: a case report and review of literature.
Br J Neurosurg
; 35(1): 116-118, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29433331
12.
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Genet Med
; 22(3): 490-499, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607746
13.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Ann Neurol
; 86(1): 116-128, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018246
14.
Characterisation of isocitrate dehydrogenase 1/isocitrate dehydrogenase 2 gene mutation and the d-2-hydroxyglutarate oncometabolite level in dedifferentiated chondrosarcoma.
Histopathology
; 76(5): 722-730, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31609487
15.
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
Mol Genet Metab
; 127(4): 336-345, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31326288
16.
Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.
Am J Med Genet A
; 179(12): 2517-2531, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31639285
17.
Machine learning classifies cancer.
Nature
; 555(7697): 446-447, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32034348
18.
Machine learning classifies cancer.
Nature
; 555(7697): 446-447, 2018 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565394
19.
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.
Glycobiology
; 28(5): 276-283, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29452367
20.
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.
Genet Med
; 18(2): 162-7, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25856670