Detalhe da pesquisa
1.
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
J Med Genet
; 58(8): 505-513, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732225
2.
Advantage of a higher position of the tracheostoma with glottic closure for preventing complications related to tracheostomy tube: a retrospective cohort study.
BMC Surg
; 22(1): 50, 2022 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148723
3.
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
Clin Genet
; 98(2): 155-165, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32385911
4.
Risk Factors for Cerebral Infarction in Duchenne Muscular Dystrophy: Review With our 2 Cases.
J Stroke Cerebrovasc Dis
; 28(9): 2453-2458, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31311695
5.
Sudden spinal hemorrhage in a pediatric case with total body irradiation-induced cavernous hemangioma.
Pediatr Blood Cancer
; 65(10): e27250, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797651
6.
Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature.
Am J Med Genet A
; 173(7): 1947-1950, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28488311
7.
Familial acute necrotizing encephalopathy without RANBP2 mutation: Poor outcome.
Pediatr Int
; 58(11): 1215-1218, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27882739
8.
[Enteral nutrition ameliorated superior mesenteric artery syndrome in a patient with Duchenne muscular dystrophy].
No To Hattatsu
; 48(1): 37-40, 2016 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-27012109
9.
A patient with Joubert syndrome who developed sleep-related breathing disorder at 15 years of age.
No To Hattatsu
; 48(6): 430-3, 2016 Nov.
Artigo
em Japonês
| MEDLINE | ID: mdl-30010293
10.
Effects and limits of acute noninvasive positive pressure ventilation in children with severe motor and intellectual disabilities with pneumonia/bronchitis.
No To Hattatsu
; 48(6): 420-4, 2016 Nov.
Artigo
em Japonês
| MEDLINE | ID: mdl-30010291
11.
Severe acute abdomen caused by symptomatic Meckel's diverticulum in three children with trisomy 18.
Am J Med Genet A
; 167A(10): 2447-50, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847166
12.
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
Epilepsia
; 56(6): 841-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25864721
13.
[Effectiveness of continuous infusion of tizanidine (Ternelin) via a feeding tube for patients with the mixed type of tetraplegia].
No To Hattatsu
; 47(1): 28-31, 2015 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-25803908
14.
[A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].
No To Hattatsu
; 47(1): 49-52, 2015 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-25803912
15.
Efficacy of pyruvate therapy in patients with mitochondrial disease: a semi-quantitative clinical evaluation study.
Mol Genet Metab
; 112(2): 133-8, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24830361
16.
[Status of children with food allergy who were prescribed an adrenaline autoinjector (epipen)].
Arerugi
; 63(5): 686-94, 2014 May.
Artigo
em Japonês
| MEDLINE | ID: mdl-24865961
17.
Reversible splenic lesion in a patient with Febrile Infection-Related Epilepsy Syndrome (FIRES).
Neuropediatrics
; 44(5): 291-4, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23794447
18.
Grisel syndrome as a complication of Kawasaki disease: a case report and review of the literature.
Eur J Pediatr
; 172(1): 119-21, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23064729
19.
[Changes in serum levels of selenium, zinc and copper in patients on a ketogenic diet using Ketonformula].
No To Hattatsu
; 45(4): 288-93, 2013 Jul.
Artigo
em Japonês
| MEDLINE | ID: mdl-23951940
20.
[Efficacy, safety and tolerability of high-dose topiramate with rapid dose titration in symptomatic West syndrome].
No To Hattatsu
; 44(6): 455-9, 2012 Nov.
Artigo
em Japonês
| MEDLINE | ID: mdl-23240526