Detalhe da pesquisa
1.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
2.
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Genet Med
; 21(5): 1058-1064, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245510
3.
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Genet Med
; 21(9): 2159-2160, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30643220
4.
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
J Hum Genet
; 62(4): 465-471, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28003643
5.
Preclinical evaluation of dipotassium bisperoxo (picolinato) oxovanadate V for the treatment of pediatric low-grade gliomas.
Future Oncol
; 9(8): 1215-29, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23902250
6.
The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice.
Genes (Basel)
; 14(8)2023 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628590
7.
Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.
Mol Genet Genomic Med
; 7(7): e00743, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127708
8.
Progress from clinical trials and emerging non-conventional therapies for the treatment of Medulloblastomas.
Cancer Lett
; 330(2): 130-40, 2013 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23211539
9.
Viability screen on pediatric low grade glioma cell lines unveils a novel anti-cancer drug of the steroid biosynthesis inhibitor family.
Cancer Lett
; 330(1): 96-105, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23201138