Detalhe da pesquisa
1.
Metabolic Regulation of the Epigenome Drives Lethal Infantile Ependymoma.
Cell
; 181(6): 1329-1345.e24, 2020 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32445698
2.
Failure of human rhombic lip differentiation underlies medulloblastoma formation.
Nature
; 609(7929): 1021-1028, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36131014
3.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
4.
Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.
Epilepsy Behav
; 145: 109266, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37385119
5.
Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation.
Nature
; 612(7940): E12, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446943
6.
Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.
J Med Genet
; 59(3): 220-229, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33526602
7.
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Hum Mutat
; 42(1): 66-76, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131106
8.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530938
9.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
10.
Developmental basis of SHH medulloblastoma heterogeneity.
Nat Commun
; 15(1): 270, 2024 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38191555
11.
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance.
Eur J Pediatr
; 172(9): 1277-81, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23358709
12.
Tandem processes identified from reaction screening: nucleophilic addition to aryl N-phosphinylimines employing La(III)-TFAA activation.
J Am Chem Soc
; 132(18): 6412-8, 2010 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20394364
13.
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Mol Genet Genomic Med
; 5(1): 40-49, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28116329
14.
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.
Sci Rep
; 6: 30072, 2016 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27436767
15.
Nucleophilic addition to N-phosphinylimines by rare-earth-metal triflate/trifluoroacetic anhydride activation.
Angew Chem Int Ed Engl
; 46(39): 7470-2, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17722135
16.
Properties of cartilage engineered from elderly human chondrocytes for articular surface repair.
Tissue Eng Part A
; 18(13-14): 1490-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22435677