Detalhe da pesquisa
1.
Quantitative retrospective natural history modeling for orphan drug development.
J Inherit Metab Dis
; 44(1): 99-109, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32845020
2.
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
PLoS Genet
; 14(12): e1007845, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30543681
3.
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.
Genet Med
; 21(10): 2208-2215, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30899093
4.
Impairment of astrocytic glutaminolysis in glutaric aciduria type I.
J Inherit Metab Dis
; 41(1): 91-99, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29098534
5.
Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.
Biochim Biophys Acta
; 1852(5): 768-77, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25558815
6.
First Japanese case of Zellweger syndrome with a mutation in PEX14.
Pediatr Int
; 57(6): 1189-92, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26627464
7.
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
Hum Mol Genet
; 21(7): 1496-503, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22171071
8.
Associations of common genetic risk variants of the muscarinic acetylcholine receptor M2 with cardiac autonomic dysfunction in patients with schizophrenia.
World J Biol Psychiatry
; 24(1): 1-11, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35172679
9.
Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia.
Genes (Basel)
; 13(11)2022 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36421807
10.
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
J Hum Genet
; 56(1): 34-40, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21048783
11.
A common variation in HCN1 is associated with heart rate variability in schizophrenia.
Schizophr Res
; 229: 73-79, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33221148
12.
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
J Hum Genet
; 55(12): 801-9, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20882035
13.
Livedoid vasculopathy: does hyperhomocysteinaemia play an aetiological role?
Eur J Dermatol
; 29(3): 287-293, 2019 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31389788
14.
Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor.
Pediatr Res
; 64(3): 228-33, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18414141
15.
Clinical reasoning: a young man with progressive subcortical lesions and optic nerve atrophy.
Neurology
; 79(7): e63-8, 2012 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22891116