Detalhe da pesquisa
1.
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
J Hum Genet
; 69(5): 177-183, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351237
2.
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Genet Med
; 22(7): 1281, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499603
3.
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Ann Neurol
; 85(6): 927-933, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30945334
4.
Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Genet Med
; 21(6): 1286-1294, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30451973
5.
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.
Mol Genet Metab
; 126(4): 362-367, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30910422
6.
Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
J Hum Genet
; 69(5): 185, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38548934
7.
Efficacy and Safety of Low-Dose Amiodarone Therapy for Tachyarrhythmia in Congenital Heart Disease.
Pediatr Cardiol
; 39(5): 1016-1022, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29523919
8.
Male infant with Noonan syndrome with RAF-1 gene mutation who survived hypertrophic cardiomyopathy-induced fatal heart failure and uncontrollable arrhythmias.
BMJ Case Rep
; 15(9)2022 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36171012
9.
Two Distinct Cases of Adult-onset Kawasaki Disease.
Intern Med
; 61(23): 3525-3529, 2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35466164
10.
Thoracic Empyema Secondary to Congenital Chylothorax in a 14-Month-Old Boy with Noonan Syndrome.
Case Rep Pediatr
; 2021: 6620353, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012687
11.
Bilateral lung transplantation in a 9-year-old girl with bronchopulmonary dysplasia with pulmonary hypertension.
Pediatr Pulmonol
; 56(10): 3417-3421, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34350735
12.
A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.
J Clin Invest
; 131(18)2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34403372
13.
Modulation of luminescence intensity of lanthanide complexes by photoinduced electron transfer and its application to a long-lived protease probe.
J Am Chem Soc
; 128(21): 6938-46, 2006 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-16719474